Lv2
120 积分 2024-08-13 加入
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
3天前
已完结
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant
1个月前
已完结
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores
1个月前
已完结
Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
1个月前
已关闭
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
1个月前
已关闭
Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy
1个月前
已完结
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds
1个月前
已完结
Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families
1个月前
已完结
Expanding MNS1 Heterotaxy Phenotype
2个月前
已完结
Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome
4个月前
已完结
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