Lv5
840 积分 2023-05-26 加入
Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
1天前
待确认
A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
5天前
已完结
Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli
6天前
已完结
Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability
6天前
已完结
PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease
7天前
已完结
Inherited 18q23 duplication in a fetus with multiple congenital anomalies
8天前
已完结
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
20天前
已完结
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability
1个月前
已完结
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype
1个月前
已完结
A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy
1个月前
已完结
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