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Human Genetics
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October 6, 2019
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
Stéphanie Moisan, Anaïs Le Nabec, Alicia Quillévéré, et al.
Human Genetics
|
January 1, 1979
PiT: a new allele in the alpha 1-antitrypsin system
P Kühnl, W Spielmann
Human Genetics
|
March 1, 1988
Prenatal diagnosis of cystic fibrosis by microvillar enzyme assay on a sequence of 258 pregnancies
D J Brock, H A Clarke, L Barron
Human Genetics
|
March 1, 1988
Germinal mosaicism in Duchenne muscular dystrophy
S Wood, B C McGillivray
Human Genetics
|
January 6, 2022
Interpretable generative deep learning: an illustration with single cell gene expression data
Martin Treppner, Harald Binder, Moritz Hess
Human Genetics
|
January 13, 2022
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum
Yu Zheng, Guanghui Zhu, Yaoxi Liu, et al.
Human Genetics
|
January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Human Genetics
|
December 10, 2021
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, et al.
Human Genetics
|
January 17, 2022
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
Ryan K Thorpe, W Daniel Walls, Rae Corrigan, et al.
Human Genetics
|
January 20, 2022
Fine human genetic map based on UK10K data set
Ziqian Hao, Pengyuan Du, Yi-Hsuan Pan, et al.
Page
of 1,126
Search research articles
Search
Showing results (121-130 of 11,257) with videos related to
Sort By:
Page
of 1,126
Human Genetics
|
October 6, 2019
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
Stéphanie Moisan, Anaïs Le Nabec, Alicia Quillévéré, et al.
Human Genetics
|
January 1, 1979
PiT: a new allele in the alpha 1-antitrypsin system
P Kühnl, W Spielmann
Human Genetics
|
March 1, 1988
Prenatal diagnosis of cystic fibrosis by microvillar enzyme assay on a sequence of 258 pregnancies
D J Brock, H A Clarke, L Barron
Human Genetics
|
March 1, 1988
Germinal mosaicism in Duchenne muscular dystrophy
S Wood, B C McGillivray
Human Genetics
|
January 6, 2022
Interpretable generative deep learning: an illustration with single cell gene expression data
Martin Treppner, Harald Binder, Moritz Hess
Human Genetics
|
January 13, 2022
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum
Yu Zheng, Guanghui Zhu, Yaoxi Liu, et al.
Human Genetics
|
January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Human Genetics
|
December 10, 2021
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, et al.
Human Genetics
|
January 17, 2022
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
Ryan K Thorpe, W Daniel Walls, Rae Corrigan, et al.
Human Genetics
|
January 20, 2022
Fine human genetic map based on UK10K data set
Ziqian Hao, Pengyuan Du, Yi-Hsuan Pan, et al.
Page
of 1,126