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Erica E Davis

Showing results (61-70 of 125) with videos related to

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Plos Genetics|April 20, 2013
Mutations in LRRC50 predispose zebrafish and humans to seminomasSander 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 signalingKimberly 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 FeaturesMuhammad 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 pedigreesKamal 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 syndromeCorinne 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 responseDaniel 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 ResponseDaniel 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 zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas 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 TypeMala Isrie, Martin Breuss, Guoling Tian, et al.
Pageof 13

Showing results (61-70 of 125) with videos related to

Sort By:
Pageof 13
Plos Genetics|April 20, 2013
Mutations in LRRC50 predispose zebrafish and humans to seminomasSander 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 signalingKimberly 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 FeaturesMuhammad 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 pedigreesKamal 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 syndromeCorinne 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 responseDaniel 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 ResponseDaniel 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 zoneElle C Roberson, William E Dowdle, Aysegul Ozanturk, et al.
Journal of Medical Genetics|May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complexNicolas 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 TypeMala Isrie, Martin Breuss, Guoling Tian, et al.
Pageof 13