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Neurobiology of Aging
|
August 10, 2017
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, et al.
Human Mutation
|
August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
Sophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.
ESMO Open
|
July 28, 2020
Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan
, Céline Auzanneau, Delphine Bacq, et al.
Journal of Medical Genetics
|
October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
Molecular Genetics & Genomic Medicine
|
January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization
Kévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Acta Neuropathologica Communications
|
February 13, 2022
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Gaël Nicolas, Myriam Sévigny, François Lecoquierre, et al.
Nature Communications
|
February 25, 2016
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Jane Merlevede, Nathalie Droin, Tingting Qin, et al.
Journal of the National Cancer Institute
|
May 5, 2022
Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
Aurélie A G Gabriel, Joshua R Atkins, Ricardo C C Penha, et al.
European Journal of Human Genetics : EJHG
|
August 6, 2015
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Gaël Nicolas, David Wallon, Camille Charbonnier, et al.
Nature Communications
|
August 7, 2024
Human genetic structure in Northwest France provides new insights into West European historical demography
Isabel Alves, Joanna Giemza, Michael G B Blum, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 55) with videos related to
Sort By:
Page
of 6
Neurobiology of Aging
|
August 10, 2017
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
Céline Bellenguez, Camille Charbonnier, Benjamin Grenier-Boley, et al.
Human Mutation
|
August 7, 2010
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
Sophie Thomas, Ferechté Encha-Razavi, Louise Devisme, et al.
ESMO Open
|
July 28, 2020
Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan
, Céline Auzanneau, Delphine Bacq, et al.
Journal of Medical Genetics
|
October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
Molecular Genetics & Genomic Medicine
|
January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization
Kévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Acta Neuropathologica Communications
|
February 13, 2022
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Gaël Nicolas, Myriam Sévigny, François Lecoquierre, et al.
Nature Communications
|
February 25, 2016
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents
Jane Merlevede, Nathalie Droin, Tingting Qin, et al.
Journal of the National Cancer Institute
|
May 5, 2022
Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
Aurélie A G Gabriel, Joshua R Atkins, Ricardo C C Penha, et al.
European Journal of Human Genetics : EJHG
|
August 6, 2015
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Gaël Nicolas, David Wallon, Camille Charbonnier, et al.
Nature Communications
|
August 7, 2024
Human genetic structure in Northwest France provides new insights into West European historical demography
Isabel Alves, Joanna Giemza, Michael G B Blum, et al.
Page
of 6