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146 积分 2024-05-16 加入
SPG4 Founder Effect in French Canadians with Hereditary Spastic Paraplegia
17小时前
求助中
Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs
1天前
已完结
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson’s Disease in Sporadic Moroccan Patients
1天前
已完结
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review
5天前
已完结
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
6天前
已完结
FAMILY HISTORY IS RELEVANT IN DECIPHERING IMMUNE DEFICIENCY SYNDROMES EVEN IN ADULTS
15天前
已完结
Dystonia Combined with Startle Is a Syndromic Clue for CTNNB1 ‐Associated Neurodevelopmental Disorder
20天前
已完结
Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations
20天前
已完结
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant
21天前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
24天前
已完结
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