Lv1
38 积分 2024-02-21 加入
Pathogenic PTPN11 variants involving the poly‐glutamine Gln 255 ‐Gln 256 ‐Gln 257 stretch highlight the relevance of helix B in SHP2's functional regulation
5小时前
待确认
Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis
12天前
已完结
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome
20天前
已完结
Noonan syndrome: Prenatal diagnosis in a woman carrying aPTPN11gene mutation
23天前
已完结
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok–Campeau Syndrome
25天前
已完结
Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion
1个月前
已完结
Recent Advances on Modeling Retinal Disease: Towards Efficient Gene/Drug Therapy
1个月前
已完结
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
1个月前
已完结
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
1个月前
已完结
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia
1个月前
已完结
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