VERNON SUTTON to Male
This is a "connection" page, showing publications VERNON SUTTON has written about Male.
Connection Strength
0.531
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52.
Score: 0.021
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Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):9-20.
Score: 0.016
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A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clin Genet. 2015 Feb; 87(2):133-40.
Score: 0.014
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Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9.
Score: 0.014
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Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8.
Score: 0.011
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Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature. Am J Med Genet A. 2010 Sep; 152A(9):2335-8.
Score: 0.011
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Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21.
Score: 0.010
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A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis. Am J Med Genet A. 2005 Mar 01; 133A(2):209-12.
Score: 0.007
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Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study. J Bone Miner Res. 2024 Sep 02; 39(9):1215-1228.
Score: 0.007
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Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study. J Clin Psychol Med Settings. 2024 Sep; 31(3):614-627.
Score: 0.007
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Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. Orthod Craniofac Res. 2024 Apr; 27(2):237-243.
Score: 0.007
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Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet. 2003 Oct; 113(5):447-51.
Score: 0.007
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3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2003; 26(1):69-71.
Score: 0.006
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918.
Score: 0.006
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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.006
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A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science. 2021 08 06; 373(6555):662-673.
Score: 0.006
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Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.
Score: 0.006
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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
Score: 0.006
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Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779.
Score: 0.006
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Craniofacial phenotypes associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3606-3612.
Score: 0.006
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.006
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Extremity anomalies associated with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3584-3592.
Score: 0.006
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Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3576-3583.
Score: 0.006
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.005
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Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A. 2020 11; 182(11):2632-2640.
Score: 0.005
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Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. Am J Med Genet. 2000 Aug 28; 93(5):381-7.
Score: 0.005
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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154.
Score: 0.005
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Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone. 2020 11; 140:115547.
Score: 0.005
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Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966.
Score: 0.005
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Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47.
Score: 0.005
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264.
Score: 0.005
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The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227.
Score: 0.005
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VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648.
Score: 0.005
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.005
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Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genet Med. 2020 03; 22(3):581-589.
Score: 0.005
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066.
Score: 0.005
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.005
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Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.
Score: 0.005
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.005
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Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 05 02; 104(5):914-924.
Score: 0.005
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Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318.
Score: 0.005
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541.
Score: 0.005
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Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. Spec Care Dentist. 2019 Mar; 39(2):214-219.
Score: 0.005
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Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis. 2019 01 29; 14(1):23.
Score: 0.005
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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.005
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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606.
Score: 0.005
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Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study. Orphanet J Rare Dis. 2018 10 25; 13(1):187.
Score: 0.005
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Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2.
Score: 0.005
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Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med. 2019 02; 21(2):275-283.
Score: 0.005
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Score: 0.005
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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genet Med. 2018 10; 20(10):1274-1283.
Score: 0.005
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43.
Score: 0.005
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Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 03; 123(3):309-316.
Score: 0.005
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Asprosin is a centrally acting orexigenic hormone. Nat Med. 2017 Dec; 23(12):1444-1453.
Score: 0.005
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.
Score: 0.005
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
Score: 0.005
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Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017 11; 122(3):39-45.
Score: 0.004
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.004
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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8.
Score: 0.004
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.004
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.004
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.004
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 09 01; 99(3):704-710.
Score: 0.004
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SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016 12; 170(12):3165-3171.
Score: 0.004
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Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep; 20(9):485-95.
Score: 0.004
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Asprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell. 2016 Apr 21; 165(3):566-79.
Score: 0.004
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Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood. Pediatr Endocrinol Rev. 2016 Mar; 13(3):585-601.
Score: 0.004
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
Score: 0.004
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.004
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.004
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Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2.
Score: 0.004
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Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Genet Med. 2016 06; 18(6):570-6.
Score: 0.004
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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45.
Score: 0.004
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Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. Am J Med Genet A. 2015 Oct; 167A(10):2272-81.
Score: 0.004
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Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. Pediatr Endocrinol Rev. 2015 Jun; 12(4):373-87.
Score: 0.004
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Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. Mol Genet Metab. 2015 Jun-Jul; 115(2-3):91-4.
Score: 0.004
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.004
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TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50.
Score: 0.004
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State of the art review in hypospadias: challenges in diagnosis and medical management. Pediatr Endocrinol Rev. 2014 Sep; 12(1):46-54.
Score: 0.004
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.004
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014 Jul; 164A(7):1713-33.
Score: 0.004
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Next-generation sequencing for disorders of low and high bone mineral density. Osteoporos Int. 2013 Aug; 24(8):2253-9.
Score: 0.003
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A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan; 78(1):11-6.
Score: 0.003
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan 01; 22(1):1-17.
Score: 0.003
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High prevalence of overweight and obesity in females with phenylketonuria. Mol Genet Metab. 2012 Sep; 107(1-2):43-8.
Score: 0.003
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012 Jun 24; 44(8):928-33.
Score: 0.003
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19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet. 2012 Aug; 20(8):852-6.
Score: 0.003
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The electroencephalogram in neonatal maple syrup urine disease: a case report. Clin EEG Neurosci. 2012 Jan; 43(1):64-7.
Score: 0.003
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Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. Am J Med Genet A. 2011 Dec; 155A(12):3030-4.
Score: 0.003
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.003
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Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation. Pediatr Blood Cancer. 2011 Aug; 57(2):321-3.
Score: 0.003
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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.
Score: 0.003
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7.
Score: 0.003
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.003
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A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21.
Score: 0.003
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Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. Proc Natl Acad Sci U S A. 2009 Sep 01; 106(35):14820-4.
Score: 0.003
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The gender medicine team: "it takes a village". Adv Pediatr. 2009; 56:145-64.
Score: 0.002
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Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15; 146A(22):2871-8.
Score: 0.002
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CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008 Aug; 94(4):422-427.
Score: 0.002
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Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405.
Score: 0.002
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Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. J Clin Sleep Med. 2008 Apr 15; 4(2):111-8.
Score: 0.002
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.002
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Parkes Weber syndrome occurring in a family with capillary malformations. Clin Dysmorphol. 2007 Jul; 16(3):167-171.
Score: 0.002
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Ethical and legal implications of genetic testing in androgen insensitivity syndrome. J Pediatr. 2007 Apr; 150(4):434-8.
Score: 0.002
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Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84.
Score: 0.002
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Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn. 2002 Nov; 22(11):1028-32.
Score: 0.002
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Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol. 2001 Feb; 16(2):136-8.
Score: 0.001
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Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9.
Score: 0.001
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Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997 Sep; 61(3):642-50.
Score: 0.001