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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Abnormalities and NIPBL[original query]
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.
Molecular genetics & genomic medicine 2014 Mar 2 (2): 115-23.
Cheng Yu-Wei, Tan Christopher A, Minor Agata, Arndt Kelly, Wysinger Latrice, Grange Dorothy K, Kozel Beth A, Robin Nathaniel H, Waggoner Darrel, Fitzpatrick Carrie, Das Soma, Del Gaudio Danie
Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.
Mental illness 2015 Sep 7 (2): 5988.
Parisi Lucia, Di Filippo Teresa, Roccella Miche
First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.
Journal of clinical pathology 2019 4 72 (8): 558-561.
Fazio Grazia, Massa Valentina, Grioni Andrea, Bystry Vojtech, Rigamonti Silvia, Saitta Claudia, Galbiati Marta, Rizzari Carmelo, Consarino Caterina, Biondi Andrea, Selicorni Angelo, Cazzaniga Giovan
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Frontiers in genetics 2023 5 14 1112153.
You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li
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