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110 积分 2025-04-19 加入
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency
8小时前
待确认
Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant
13小时前
已完结
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum
6天前
已完结
TNNT1 myopathy with novel compound heterozygous mutations
6天前
已完结
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation
12天前
已关闭
CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases
15天前
已完结
CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism
18天前
已关闭
CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases
19天前
已完结
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent
28天前
已完结
[Molecular mechanisms of Glanzmann thrombasthenia caused by alpha II b L721R and Q860X compound heterozygous mutation]
29天前
已关闭
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