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146 积分 2024-05-16 加入
Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review
1天前
待确认
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
2天前
已完结
FAMILY HISTORY IS RELEVANT IN DECIPHERING IMMUNE DEFICIENCY SYNDROMES EVEN IN ADULTS
11天前
已完结
Dystonia Combined with Startle Is a Syndromic Clue for CTNNB1 ‐Associated Neurodevelopmental Disorder
16天前
已完结
Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations
17天前
已完结
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant
17天前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
21天前
已完结
New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk
21天前
已完结
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
25天前
已完结
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity
27天前
已完结
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