Lv11
62 积分 2024-11-22 加入
Genetics of Pheochromocytoma and Paraganglioma in Spanish Patients
4小时前
待确认
Phenotypic features of epilepsy due to sodium channelopathies – A single center experience from India
9天前
已关闭
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
13天前
已完结
Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies
19天前
已完结
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease
20天前
已完结
Extreme childhood obesity secondary to homozygous melanocortin 4 receptor (MC4R) mutation: a case report
21天前
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Genetic investigation of patients with tall stature
21天前
已关闭
Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
26天前
已关闭
Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease
27天前
已完结
Ophthalmic Findings Associated with NEDD4L-related Disorder
28天前
已关闭
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