Search research articles
Contact Us
Filters
Showing results (41-50 of 50) with videos related to
Page
of 5
Sort By:
You have reached the last page of results.
This site can display upto 50 results.
The Journal of Clinical Investigation
|
October 4, 2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
Raphael Carapito, Martina Konantz, Catherine Paillard, 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.
NPJ Genomic Medicine
|
July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
NPJ Genomic Medicine
|
December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
European Journal of Human Genetics : EJHG
|
February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
Cell
|
October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, 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.
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 features
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
The Journal of Clinical Investigation
|
October 4, 2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
Raphael Carapito, Martina Konantz, Catherine Paillard, 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.
NPJ Genomic Medicine
|
July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
NPJ Genomic Medicine
|
December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
European Journal of Human Genetics : EJHG
|
February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
Cell
|
October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, 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.
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 features
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Page
of 5