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Plos Genetics
|
April 20, 2013
Mutations in LRRC50 predispose zebrafish and humans to seminomas
Sander G Basten, Erica E Davis, Ad J M Gillis, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signaling
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
American Journal of Human Genetics
|
May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Muhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
American Journal of Medical Genetics. Part A
|
October 26, 2021
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees
Kamal Khan, Sarmad Mehmood, Chunyu Liu, et al.
American Journal of Human Genetics
|
December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
Corinne Stoetzel, Jean Muller, Virginie Laurier, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 19, 2024
<i>TNF</i> promoter hypomethylation is associated with mucosal inflammation in IBD and anti-TNF response
Daniel S Levic, Donna Niedzwiecki, Apoorva Kandakatla, et al.
Gastro Hep Advances
|
September 17, 2024
<i>TNF</i> Promoter Hypomethylation Is Associated With Mucosal Inflammation in IBD and Anti-TNF Response
Daniel S Levic, Donna Niedzwiecki, Apoorva Kandakatla, et al.
The Journal of Cell Biology
|
April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Elle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
Journal of Medical Genetics
|
May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Nicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
American Journal of Human Genetics
|
December 7, 2015
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Mala Isrie, Martin Breuss, Guoling Tian, et al.
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of 13
Search research articles
Search
Showing results (61-70 of 125) with videos related to
Sort By:
Page
of 13
Plos Genetics
|
April 20, 2013
Mutations in LRRC50 predispose zebrafish and humans to seminomas
Sander G Basten, Erica E Davis, Ad J M Gillis, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signaling
Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
American Journal of Human Genetics
|
May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Muhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
American Journal of Medical Genetics. Part A
|
October 26, 2021
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees
Kamal Khan, Sarmad Mehmood, Chunyu Liu, et al.
American Journal of Human Genetics
|
December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
Corinne Stoetzel, Jean Muller, Virginie Laurier, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 19, 2024
<i>TNF</i> promoter hypomethylation is associated with mucosal inflammation in IBD and anti-TNF response
Daniel S Levic, Donna Niedzwiecki, Apoorva Kandakatla, et al.
Gastro Hep Advances
|
September 17, 2024
<i>TNF</i> Promoter Hypomethylation Is Associated With Mucosal Inflammation in IBD and Anti-TNF Response
Daniel S Levic, Donna Niedzwiecki, Apoorva Kandakatla, et al.
The Journal of Cell Biology
|
April 15, 2015
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Elle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
Journal of Medical Genetics
|
May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Nicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
American Journal of Human Genetics
|
December 7, 2015
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Mala Isrie, Martin Breuss, Guoling Tian, et al.
Page
of 13