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Bryn D Webb

Showing results (31-40 of 51) with videos related to

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Human Mutation|March 30, 2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremorBryn D Webb, Anthony Evans, Thomas P Naidich, et al.
International Journal of Environmental Research and Public Health|May 25, 2024
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial WeaknessDenise K Liberton, Konstantinia Almpani, Rashmi Mishra, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 4, 2025
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness DisordersKonstantinia Almpani, Katelin R Devine, Denise K Liberton, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|March 31, 2012
Determinants of quality of life in children with chronic somatic disease: pilot data from the GapS QuestionnaireBryn D Webb, Maru Barrera, Joseph Beyene, et al.
Genome Research|December 14, 2005
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)Gregory E Crawford, Ingeborg E Holt, James Whittle, et al.
American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patientsGidon Akler, Ashley H Birch, Nicole Schreiber-Agus, et al.
Immunity|August 5, 2020
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical FunctionConor N Gruber, Jorg J A Calis, Sofija Buta, et al.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
Human Mutation|March 30, 2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremorBryn D Webb, Anthony Evans, Thomas P Naidich, et al.
International Journal of Environmental Research and Public Health|May 25, 2024
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial WeaknessDenise K Liberton, Konstantinia Almpani, Rashmi Mishra, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 4, 2025
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness DisordersKonstantinia Almpani, Katelin R Devine, Denise K Liberton, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|March 31, 2012
Determinants of quality of life in children with chronic somatic disease: pilot data from the GapS QuestionnaireBryn D Webb, Maru Barrera, Joseph Beyene, et al.
Genome Research|December 14, 2005
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)Gregory E Crawford, Ingeborg E Holt, James Whittle, et al.
American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patientsGidon Akler, Ashley H Birch, Nicole Schreiber-Agus, et al.
Immunity|August 5, 2020
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical FunctionConor N Gruber, Jorg J A Calis, Sofija Buta, et al.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
Pageof 6