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Physical Review Letters
|
October 10, 2006
Activation measurement of the 3He(alpha,gamma)7Be cross section at low energy
D Bemmerer, F Confortola, H Costantini, et al.
American Journal of Human Genetics
|
June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
Parkinsonism & Related Disorders
|
May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population
Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.
European Journal of Human Genetics : EJHG
|
November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Advances in Medical Sciences
|
April 13, 2019
Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas
Jan Lukas, Jola Pospech, Christina Oppermann, et al.
Nature Communications
|
May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
Mirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Frontiers in Neurology
|
September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
Tatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
Human Mutation
|
February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
European Journal of Human Genetics : EJHG
|
August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Aida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Page
of 64
Search research articles
Search
Showing results (601-610 of 632) with videos related to
Sort By:
Page
of 64
Physical Review Letters
|
October 10, 2006
Activation measurement of the 3He(alpha,gamma)7Be cross section at low energy
D Bemmerer, F Confortola, H Costantini, et al.
American Journal of Human Genetics
|
June 25, 2019
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, et al.
Parkinsonism & Related Disorders
|
May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian population
Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.
European Journal of Human Genetics : EJHG
|
November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
Advances in Medical Sciences
|
April 13, 2019
Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas
Jan Lukas, Jola Pospech, Christina Oppermann, et al.
Nature Communications
|
May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
Mirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Frontiers in Neurology
|
September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort
Tatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
Human Mutation
|
February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
European Journal of Human Genetics : EJHG
|
August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Aida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
Page
of 64