Lv1
100 积分 2024-05-12 加入
Deletion of 11 Amino Acids in Tuberin Associated with Severe Tuberous Sclerosis Phenotypes: Evidence for a New Essential Domain in the First Third of the Protein
2天前
待确认
Genetic Etiology of Epilepsy: A Retrospective Study From a Single‐Center Cohort
23天前
已完结
High prevalence of copy number variations in the Japanese participants with suspected MODY
23天前
已完结
Targeted Next-Generation Sequencing for the Diagnosis of Gene Variants in Patients with 46,XY Disorder of Sex Development
25天前
已完结
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
25天前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
26天前
已完结
Clinical and genetic characterization of pediatric patients with Wilson’s disease from Yunnan province where ethnic minorities gather
1个月前
已完结
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing
1个月前
已完结
Rational Design and Intramolecular Cyclization of Hotspot Peptide Segments at YAP–TEAD4 Complex Interface
1个月前
已完结
Case report: A 10-year prognosis of neonatal diabetes caused by a novel INS gene mutation
1个月前
已完结
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