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Journal of Medical Genetics
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September 6, 2015
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Gregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Neurology. Genetics
|
June 8, 2017
<i>ARHGEF9</i> disease: Phenotype clarification and genotype-phenotype correlation
Michael Alber, Vera M Kalscheuer, Elysa Marco, et al.
American Journal of Human Genetics
|
May 21, 2019
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
Galen E B Wright, Jennifer A Collins, Chris Kay, et al.
Nature Genetics
|
October 15, 1998
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
B A Minassian, J R Lee, J A Herbrick, et al.
American Journal of Human Genetics
|
December 20, 2024
Chromosome X-wide common variant association study in autism spectrum disorder
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, et al.
Molecular Psychiatry
|
January 5, 2023
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Brianna K Unda, Leon Chalil, Sehyoun Yoon, et al.
International Psychogeriatrics
|
April 17, 2023
Cost consequence analysis of Apathy in Dementia Methylphenidate Trial 2 (ADMET 2)
Krista L Lanctôt, Clara Chen, Ethan Mah, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 7, 2024
Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Miriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Page
of 92
Search research articles
Search
Showing results (741-750 of 915) with videos related to
Sort By:
Page
of 92
Journal of Medical Genetics
|
September 6, 2015
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
Gregory Costain, Bert Callewaert, Heinz Gabriel, et al.
Neurology. Genetics
|
June 8, 2017
<i>ARHGEF9</i> disease: Phenotype clarification and genotype-phenotype correlation
Michael Alber, Vera M Kalscheuer, Elysa Marco, et al.
American Journal of Human Genetics
|
May 21, 2019
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
Galen E B Wright, Jennifer A Collins, Chris Kay, et al.
Nature Genetics
|
October 15, 1998
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
B A Minassian, J R Lee, J A Herbrick, et al.
American Journal of Human Genetics
|
December 20, 2024
Chromosome X-wide common variant association study in autism spectrum disorder
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, et al.
Molecular Psychiatry
|
January 5, 2023
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Brianna K Unda, Leon Chalil, Sehyoun Yoon, et al.
International Psychogeriatrics
|
April 17, 2023
Cost consequence analysis of Apathy in Dementia Methylphenidate Trial 2 (ADMET 2)
Krista L Lanctôt, Clara Chen, Ethan Mah, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 7, 2024
Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2018
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Miriam S Reuter, Rebekah Jobling, Rajiv R Chaturvedi, et al.
Page
of 92