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Bryn D Webb

Showing results (21-30 of 51) with videos related to

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Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|October 18, 2023
Inability to move one's face dampens facial expression perceptionShruti Japee, Jessica Jordan, Judith Licht, et al.
Human Mutation|March 11, 2015
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing lossBryn D Webb, Patricia G Wheeler, Jacob J Hagen, et al.
European Journal of Human Genetics : EJHG|March 17, 2019
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
Clinical Genetics|June 18, 2026
USP34 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesHelena Wigoda, Amjad Khan, Bryce A Mendelsohn, et al.
European Journal of Human Genetics : EJHG|September 4, 2019
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
Muscle & Nerve|January 3, 2021
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studiesTanya Lehky, Reversa Joseph, Camilo Toro, et al.
Genome Medicine|September 5, 2015
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratoriesJinlian Wang, Jun Liao, Jinglan Zhang, et al.
Orphanet Journal of Rare Diseases|May 2, 2024
An algorithm to identify patients aged 0-3 with rare genetic disordersBryn D Webb, Lisa Y Lau, Despina Tsevdos, et al.
Brain Communications|April 25, 2020
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometryNeda Sadeghi, Elizabeth Hutchinson, Carol Van Ryzin, et al.
Elife|March 7, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.
Pageof 6

Showing results (21-30 of 51) with videos related to

Sort By:
Pageof 6
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|October 18, 2023
Inability to move one's face dampens facial expression perceptionShruti Japee, Jessica Jordan, Judith Licht, et al.
Human Mutation|March 11, 2015
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing lossBryn D Webb, Patricia G Wheeler, Jacob J Hagen, et al.
European Journal of Human Genetics : EJHG|March 17, 2019
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
Clinical Genetics|June 18, 2026
USP34 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesHelena Wigoda, Amjad Khan, Bryce A Mendelsohn, et al.
European Journal of Human Genetics : EJHG|September 4, 2019
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
Muscle & Nerve|January 3, 2021
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studiesTanya Lehky, Reversa Joseph, Camilo Toro, et al.
Genome Medicine|September 5, 2015
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratoriesJinlian Wang, Jun Liao, Jinglan Zhang, et al.
Orphanet Journal of Rare Diseases|May 2, 2024
An algorithm to identify patients aged 0-3 with rare genetic disordersBryn D Webb, Lisa Y Lau, Despina Tsevdos, et al.
Brain Communications|April 25, 2020
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometryNeda Sadeghi, Elizabeth Hutchinson, Carol Van Ryzin, et al.
Elife|March 7, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.
Pageof 6