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Jean-Hubert Caberg

Showing results (31-40 of 41) with videos related to

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European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Endocrine-Related Cancer|February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responsesAlbert Beckers, Maya Beth Lodish, Giampaolo Trivellin, et al.
The New England Journal of Medicine|December 4, 2014
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutationGiampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Endocrine-Related Cancer|July 19, 2015
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patientsLiliya Rostomyan, Adrian F Daly, Patrick Petrossians, 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.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challengesOlivier Vanakker, Catheline Vilain, Katrien Janssens, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.
Journal of Medical Genetics|October 6, 2018
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlationsLaïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Endocrine-Related Cancer|February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responsesAlbert Beckers, Maya Beth Lodish, Giampaolo Trivellin, et al.
The New England Journal of Medicine|December 4, 2014
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutationGiampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, et al.
Endocrine-Related Cancer|July 19, 2015
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patientsLiliya Rostomyan, Adrian F Daly, Patrick Petrossians, 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.
Pageof 5