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90 积分 2025-11-24 加入
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
2天前
已完结
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation
3天前
已完结
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome
4天前
已完结
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
4天前
已完结
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
8天前
已完结
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
16天前
已完结
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience
1个月前
已完结
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
1个月前
已完结
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing
1个月前
已完结
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
2个月前
已完结
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