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Dominique Martin

Showing results (71-80 of 77) with videos related to

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Haematologica|April 26, 2014
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopeniaPatrizia Noris, Nicole Schlegel, Catherine Klersy, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Human Mutation|April 25, 2015
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Pageof 8

Showing results (71-80 of 77) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 77 results.
Haematologica|April 26, 2014
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopeniaPatrizia Noris, Nicole Schlegel, Catherine Klersy, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Human Mutation|April 25, 2015
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Pageof 8