Zain Bassam Mohammad DARDAS to Humans
This is a "connection" page, showing publications Zain Bassam Mohammad DARDAS has written about Humans.
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0.138
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
Score: 0.026
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NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.025
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The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families. Eur J Med Genet. 2020 Apr; 63(4):103845.
Score: 0.019
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.006
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
Score: 0.006
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SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management. Genes (Basel). 2022 11 23; 13(12).
Score: 0.006
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Investigating the genetic profile of familial atypical cystic fibrosis patients (DeltaF508-CFTR) with neonatal biliary atresia. J Appl Genet. 2023 Feb; 64(1):71-80.
Score: 0.006
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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.006
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Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study. Genes (Basel). 2022 05 29; 13(6).
Score: 0.006
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TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects. Mol Med Rep. 2022 06; 25(6).
Score: 0.005
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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies. Genes (Basel). 2021 04 19; 12(4).
Score: 0.005
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Enteric anendocrinosis attributable to a novel Neurogenin-3 variant. Eur J Med Genet. 2020 Sep; 63(9):103981.
Score: 0.005
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Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. Mol Vis. 2020; 26:445-458.
Score: 0.005
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Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing. Mol Genet Genomic Med. 2020 03; 8(3):e1123.
Score: 0.005
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The frequency of NOTCH1 variants in T-acute lymphoblastic leukemia/lymphoma and chronic lymphocytic leukemia/small lymphocytic lymphoma among Jordanian patients. Ann Diagn Pathol. 2019 Apr; 39:53-58.
Score: 0.004
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Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies. Can J Ophthalmol. 2019 02; 54(1):51-59.
Score: 0.004