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Jonathan A Bernstein

Showing results (581-590 of 606) with videos related to

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American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
Clinical and Translational Allergy|November 15, 2025
Key Predictors of Adherence to a Mobile Health App for Managing Chronic Spontaneous UrticariaHugo Viegas, Bernardo Sousa-Pinto, Rafael José Vieira, et al.
American Journal of Clinical Dermatology|March 17, 2026
Factors Associated with Symptomatic Dermographism: Findings from the UCARE PREVALENCE-D StudyKanokvalai Kulthanan, Jonathan A Bernstein, Michael Rudenko, et al.
The World Allergy Organization Journal|December 1, 2025
Food allergy severity across the world: A World Allergy Organization international surveyStefania Arasi, Mário Morais-Almeida, Bryan L Martin, et al.
Allergy|September 18, 2021
The international EAACI/GA²LEN/EuroGuiDerm/APAAACI guideline for the definition, classification, diagnosis, and management of urticariaTorsten Zuberbier, Amir Hamzah Abdul Latiff, Mohamed Abuzakouk, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Pageof 61

Showing results (581-590 of 606) with videos related to

Sort By:
Pageof 61
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.
American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
Clinical and Translational Allergy|November 15, 2025
Key Predictors of Adherence to a Mobile Health App for Managing Chronic Spontaneous UrticariaHugo Viegas, Bernardo Sousa-Pinto, Rafael José Vieira, et al.
American Journal of Clinical Dermatology|March 17, 2026
Factors Associated with Symptomatic Dermographism: Findings from the UCARE PREVALENCE-D StudyKanokvalai Kulthanan, Jonathan A Bernstein, Michael Rudenko, et al.
The World Allergy Organization Journal|December 1, 2025
Food allergy severity across the world: A World Allergy Organization international surveyStefania Arasi, Mário Morais-Almeida, Bryan L Martin, et al.
Allergy|September 18, 2021
The international EAACI/GA²LEN/EuroGuiDerm/APAAACI guideline for the definition, classification, diagnosis, and management of urticariaTorsten Zuberbier, Amir Hamzah Abdul Latiff, Mohamed Abuzakouk, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Pageof 61