Lv1
44 积分 2024-05-31 加入
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature
10小时前
已关闭
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1天前
已完结
Recent advances in riboflavin transporter RFVT and its genetic disease
5天前
已完结
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
12天前
已完结
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland
12天前
已完结
Glucose-6-phosphate dehydrogenase and its 3D structures from crystallography and electron cryo-microscopy
13天前
已关闭
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
13天前
已完结
Clinical exome sequencing findings in 1589 patients
14天前
已完结
The ornithine transcarbamylase (OTC) gene: Mutations in 50 Japanese families with OTC deficiency
19天前
已完结
Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene
19天前
已完结
皖公网安备34019202002308
