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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 challenges
Olivier 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 study
Guillaume 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 variants
Corrine 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 variants
Corrine 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 correlations
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Endocrine-Related Cancer
|
February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responses
Albert 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 mutation
Giampaolo 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 variants
Lucilla 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 patients
Liliya 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 disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
European Journal of Medical Genetics
|
February 19, 2014
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
Olivier 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 study
Guillaume 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 variants
Corrine 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 variants
Corrine 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 correlations
Laïla Allach El Khattabi, Solveig Heide, Jean-Hubert Caberg, et al.
Endocrine-Related Cancer
|
February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responses
Albert 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 mutation
Giampaolo 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 variants
Lucilla 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 patients
Liliya 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 disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Page
of 5