Lv46
460 积分 2023-12-05 加入
Spontaneous Intracranial Hypotension as First Symptom of Aneurysms‐Osteoarthritis Syndrome: A Case Report
1天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
1天前
已完结
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes
2天前
已完结
Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series
8天前
已完结
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults
10天前
已关闭
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
10天前
已完结
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
11天前
已完结
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations
11天前
已完结
PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
14天前
已完结
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]
16天前
已完结
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