Search research articles
Contact Us
Filters
Showing results (181-190 of 193) with videos related to
Page
of 20
Sort By:
Developmental Medicine and Child Neurology
|
July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis
Venkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
Gali Heimer, Danit Oz-Levi, Eran Eyal, et al.
The Journal of Investigative Dermatology
|
August 30, 2019
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome
Eran Cohen-Barak, Lisa M Godsel, Jennifer L Koetsier, et al.
Journal of Medical Genetics
|
August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Shlomit Ezer, Tal Sido, Jonathan Rips, et al.
Clinical Genetics
|
March 13, 2016
Expanding the genotypic spectrum of Perrault syndrome
L A M Demain, J E Urquhart, J O'Sullivan, et al.
Nature Genetics
|
November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Martin Zenker, Julia Mayerle, Markus M Lerch, et al.
Familial Cancer
|
November 15, 2024
The genetic landscape of Lynch syndrome in the Israeli population
Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.
Familial Cancer
|
March 21, 2025
Correction: The genetic landscape of Lynch syndrome in the Israeli population
Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.
Psychological Medicine
|
October 30, 2015
The epidemiology of traumatic event exposure worldwide: results from the World Mental Health Survey Consortium
C Benjet, E Bromet, E G Karam, et al.
Journal of Medical Genetics
|
July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Page
of 20
Search research articles
Search
Showing results (181-190 of 193) with videos related to
Sort By:
Page
of 20
Developmental Medicine and Child Neurology
|
July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis
Venkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
Gali Heimer, Danit Oz-Levi, Eran Eyal, et al.
The Journal of Investigative Dermatology
|
August 30, 2019
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome
Eran Cohen-Barak, Lisa M Godsel, Jennifer L Koetsier, et al.
Journal of Medical Genetics
|
August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Shlomit Ezer, Tal Sido, Jonathan Rips, et al.
Clinical Genetics
|
March 13, 2016
Expanding the genotypic spectrum of Perrault syndrome
L A M Demain, J E Urquhart, J O'Sullivan, et al.
Nature Genetics
|
November 29, 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Martin Zenker, Julia Mayerle, Markus M Lerch, et al.
Familial Cancer
|
November 15, 2024
The genetic landscape of Lynch syndrome in the Israeli population
Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.
Familial Cancer
|
March 21, 2025
Correction: The genetic landscape of Lynch syndrome in the Israeli population
Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.
Psychological Medicine
|
October 30, 2015
The epidemiology of traumatic event exposure worldwide: results from the World Mental Health Survey Consortium
C Benjet, E Bromet, E G Karam, et al.
Journal of Medical Genetics
|
July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.
Page
of 20