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Michael F Wangler

Showing results (31-40 of 114) with videos related to

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American Journal of Obstetrics and Gynecology|February 20, 2007
Racial disparity in the frequency of recurrence of preterm birthZachary A-F Kistka, Lisanne Palomar, Kirstin A Lee, et al.
Molecular Genetics & Genomic Medicine|January 24, 2020
Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemiaJidong Liu, Guolian Ding, Kexin Zou, et al.
Genetics|September 7, 2017
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic ResearchMichael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, et al.
Scientific Reports|April 22, 2022
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling dataLillian R Thistlethwaite, Xiqi Li, Lindsay C Burrage, et al.
Scientific Reports|June 2, 2022
Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorderBenjamin J Grosso, Audra A Kramer, Sidharth Tyagi, et al.
Human Mutation|February 15, 2022
Novel CIC variants identified in individuals with neurodevelopmental phenotypesSaloni Sharma, Brenna Hourigan, Zain Patel, et al.
Orphanet Journal of Rare Diseases|May 8, 2021
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future visionDustin Baldridge, Michael F Wangler, Angela N Bowman, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
Genetic analysis of the X-linked Adrenoleukodystrophy <i>ABCD1 gene</i> in <i>Drosophila</i> uncovers a role in Peroxisomal dynamicsJoshua Manor, Sharayu V Jangam, Hyung-Lok Chung, et al.
Genetics|June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu V Jangam, Lauren C Briere, Kristy L Jay, et al.
Journal of Pediatric Hematology/Oncology|November 20, 2019
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell LeukemiaSei-Gyung K Sze, Howard M Lederman, Thomas O Crawford, et al.
Pageof 12

Showing results (31-40 of 114) with videos related to

Sort By:
Pageof 12
American Journal of Obstetrics and Gynecology|February 20, 2007
Racial disparity in the frequency of recurrence of preterm birthZachary A-F Kistka, Lisanne Palomar, Kirstin A Lee, et al.
Molecular Genetics & Genomic Medicine|January 24, 2020
Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemiaJidong Liu, Guolian Ding, Kexin Zou, et al.
Genetics|September 7, 2017
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic ResearchMichael F Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, et al.
Scientific Reports|April 22, 2022
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling dataLillian R Thistlethwaite, Xiqi Li, Lindsay C Burrage, et al.
Scientific Reports|June 2, 2022
Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorderBenjamin J Grosso, Audra A Kramer, Sidharth Tyagi, et al.
Human Mutation|February 15, 2022
Novel CIC variants identified in individuals with neurodevelopmental phenotypesSaloni Sharma, Brenna Hourigan, Zain Patel, et al.
Orphanet Journal of Rare Diseases|May 8, 2021
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future visionDustin Baldridge, Michael F Wangler, Angela N Bowman, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
Genetic analysis of the X-linked Adrenoleukodystrophy <i>ABCD1 gene</i> in <i>Drosophila</i> uncovers a role in Peroxisomal dynamicsJoshua Manor, Sharayu V Jangam, Hyung-Lok Chung, et al.
Genetics|June 14, 2023
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogasterSharayu V Jangam, Lauren C Briere, Kristy L Jay, et al.
Journal of Pediatric Hematology/Oncology|November 20, 2019
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell LeukemiaSei-Gyung K Sze, Howard M Lederman, Thomas O Crawford, et al.
Pageof 12