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Movement Disorders : Official Journal of the Movement Disorder Society
|
November 25, 2021
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study
Wo-Tu Tian, Fei-Xia Zhan, Zhen-Hua Liu, et al.
Nature Genetics
|
December 18, 2012
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma
De-Ke Jiang, Jielin Sun, Guangwen Cao, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
American Journal of Human Genetics
|
August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Jung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
Journal of Medical Genetics
|
April 6, 2017
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Nature Communications
|
February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Page
of 45
Search research articles
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Showing results (441-450 of 449) with videos related to
Sort By:
Page
of 45
You have reached the last page of results.
This site can display upto 449 results.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 25, 2021
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study
Wo-Tu Tian, Fei-Xia Zhan, Zhen-Hua Liu, et al.
Nature Genetics
|
December 18, 2012
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma
De-Ke Jiang, Jielin Sun, Guangwen Cao, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, et al.
Human Mutation
|
March 1, 2019
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Bobby G Ng, Paulina Sosicka, Satish Agadi, et al.
American Journal of Human Genetics
|
August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Jung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
Journal of Medical Genetics
|
April 6, 2017
<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Konrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Nature Communications
|
February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Holger Hengel, Célia Bosso-Lefèvre, George Grady, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Page
of 45