WILLIAM CRAIGEN to Syndrome
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Syndrome.
Connection Strength
0.236
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DNA methylation episignature in Gabriele-de Vries?syndrome. Genet Med. 2022 04; 24(4):905-914.
Score: 0.039
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Sch?pf-Schulz-Passarge syndrome with an unusual pattern of inheritance. Am J Med Genet. 1997 Aug 08; 71(2):186-8.
Score: 0.029
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.024
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Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8.
Score: 0.021
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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet. 2011 Dec; 56(12):834-9.
Score: 0.019
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Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8.
Score: 0.019
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Genetic disorders with both hearing loss and cardiovascular abnormalities. Adv Otorhinolaryngol. 2011; 70:66-74.
Score: 0.018
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Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Dev Pathol. 2010 Jul-Aug; 13(4):322-5.
Score: 0.018
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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar; 99(3):300-8.
Score: 0.017
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.013
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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6.
Score: 0.011
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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet. 2000 Jul 01; 9(11):1587-95.
Score: 0.009