Lv4
490 积分 2022-05-13 加入
Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2
2个月前
已完结
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy
3个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
3个月前
已完结
Expanding MNS1 Heterotaxy Phenotype
3个月前
已完结
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
4个月前
已完结
[Detection of CFTR gene mutations in azoospermia patients with congenital unilateral absence of the vas deferens]
4个月前
已完结
Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis
4个月前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
4个月前
已完结
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
4个月前
已完结
Molecular damage in Fabry disease: Characterization and prediction of alpha‐galactosidase A pathological mutations
4个月前
已完结
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