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Elizabeth Wohler

Showing results (31-40 of 44) with videos related to

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Human Molecular Genetics|July 18, 2023
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosisDenise Rebello, Elizabeth Wohler, Vida Erfani, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|December 8, 2023
Anxiety and dysautonomia symptoms in patients with a Na<sub>V</sub>1.7 mutation and the potential benefits of low-dose short-acting guanfacineRita de Cássia Collaço, Maxime Lammens, Carley Blevins, et al.
Plos Genetics|June 26, 2010
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneNara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, et al.
Plos Genetics|December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndromeSarah R Poll, Renan Martin, Elizabeth Wohler, et al.
American Journal of Medical Genetics. Part A|May 6, 2020
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformationsNoura Al Dhaheri, Nan Wu, Sen Zhao, et al.
Journal of Clinical Immunology|July 9, 2020
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual InheritanceOskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
Scientific Reports|May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from PakistanMemoona Ramzan, Hafiza Idrees, Hina Khan, et al.
Human Genetics|June 29, 2021
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel diseaseMara Cananzi, Elizabeth Wohler, Antonio Marzollo, et al.
Frontiers in Genetics|October 17, 2019
<i>Missense Pathogenic variants in KIF4A</i> Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-InvaginatusLord J J Gowans, Sophia Cameron-Christie, Rebecca L Slayton, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Human Molecular Genetics|July 18, 2023
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosisDenise Rebello, Elizabeth Wohler, Vida Erfani, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|December 8, 2023
Anxiety and dysautonomia symptoms in patients with a Na<sub>V</sub>1.7 mutation and the potential benefits of low-dose short-acting guanfacineRita de Cássia Collaço, Maxime Lammens, Carley Blevins, et al.
Plos Genetics|June 26, 2010
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneNara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, et al.
Plos Genetics|December 8, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndromeSarah R Poll, Renan Martin, Elizabeth Wohler, et al.
American Journal of Medical Genetics. Part A|May 6, 2020
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformationsNoura Al Dhaheri, Nan Wu, Sen Zhao, et al.
Journal of Clinical Immunology|July 9, 2020
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual InheritanceOskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
Scientific Reports|May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from PakistanMemoona Ramzan, Hafiza Idrees, Hina Khan, et al.
Human Genetics|June 29, 2021
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel diseaseMara Cananzi, Elizabeth Wohler, Antonio Marzollo, et al.
Frontiers in Genetics|October 17, 2019
<i>Missense Pathogenic variants in KIF4A</i> Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-InvaginatusLord J J Gowans, Sophia Cameron-Christie, Rebecca L Slayton, et al.
Pageof 5