Lv3
210 积分 2021-08-31 加入
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
1天前
待确认
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
16天前
已完结
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy
28天前
已完结
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
29天前
已完结
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
1个月前
已完结
一例新发的46，X，der(X)t(X；Y)(p22.3；p11.2)胎儿的遗传学分析
1个月前
已完结
Microcephaly, Cerebellar Hypoplasia, Enlarged Posterior Fossa and Polyhydramnios: Prenatal Phenotypes for CASK‐Related Disorders
1个月前
已完结
First clinical description of a pedigree with complete NAF1 deletion
1个月前
已完结
Uniparental disomy: Origin, frequency, and clinical significance
1个月前
已完结
IGF1 haploinsufficiency in children with short stature: a case series
3个月前
已完结
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