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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Nature Genetics
|
September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A Otto, Toby W Hurd, Rannar Airik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
November 1, 2022
Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort
Kelly M Sunderland, Derek Beaton, Stephen R Arnott, et al.
Nature
|
March 12, 2026
A sorghum pangenome reference improves global crop trait discovery
Geoffrey P Morris, Avril M Harder, Adam L Healey, et al.
American Journal of Human Genetics
|
May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Genome Biology
|
March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A Brownstein, Alan H Beggs, Nils Homer, et al.
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Search research articles
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Showing results (801-810 of 808) with videos related to
Sort By:
Page
of 81
You have reached the last page of results.
This site can display upto 808 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 families
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Nature Genetics
|
September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A Otto, Toby W Hurd, Rannar Airik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
November 1, 2022
Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort
Kelly M Sunderland, Derek Beaton, Stephen R Arnott, et al.
Nature
|
March 12, 2026
A sorghum pangenome reference improves global crop trait discovery
Geoffrey P Morris, Avril M Harder, Adam L Healey, et al.
American Journal of Human Genetics
|
May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Genome Biology
|
March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Page
of 81