Lv1
48 积分 2024-09-12 加入
Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple–Baraitser/Zimmermann–Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant
3个月前
已完结
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
3个月前
已完结
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders
3个月前
已完结
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report
3个月前
已完结
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
3个月前
已完结
‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
3个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
3个月前
已完结
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
3个月前
已完结
Structure and function of Nurr1 identifies a class of ligand-independent nuclear receptors
3个月前
已完结
皖公网安备34019202002308
