Lv4
428 积分 2023-08-09 加入
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion
2个月前
已完结
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review
2个月前
已完结
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency
2个月前
已完结
Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
2个月前
已完结
Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood
2个月前
已完结
Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases
2个月前
已完结
Familial Sneddon's syndrome
2个月前
已关闭
Familial Sneddon's syndrome
2个月前
已关闭
Mutant ADA2 in vasculopathies
2个月前
已完结
A Chinese DADA2 patient: report of two novel mutations and successful HSCT
2个月前
已完结
皖公网安备34019202002308
