Lv3
314 积分 2022-12-14 加入
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
1天前
已关闭
Two remarkable cases of haploinsufficiency found in the DYRK1A gene
1天前
待确认
Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders
1天前
已完结
Rock around DYRK1A: Ethnic diversity, clinical challenges
1天前
已完结
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome
1天前
已完结
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
1天前
已完结
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes
1天前
已完结
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
1天前
已完结
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
1天前
已完结
[Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability]
1天前
已完结
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