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Jonathan A Bernstein

Showing results (591-600 of 606) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
The Journal of Allergy and Clinical Immunology|April 26, 2024
Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensusAvner Reshef, Thomas Buttgereit, Stephen D Betschel, et al.
Allergy|December 7, 2020
The global impact of the COVID-19 pandemic on the management and course of chronic urticariaEmek Kocatürk, Andaç Salman, Ivan Cherrez-Ojeda, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Clinical and Translational Allergy|September 25, 2023
A concept for integrated care pathways for atopic dermatitis-A GA<sup>2</sup> LEN ADCARE initiativeTorsten Zuberbier, Amir Abdul Latiff, Xenofon Aggelidis, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
The Journal of Allergy and Clinical Immunology|August 13, 2023
Urticaria exacerbations and adverse reactions in patients with chronic urticaria receiving COVID-19 vaccination: Results of the UCARE COVAC-CU studyEmek Kocatürk, Pascale Salameh, Esra Sarac, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 61

Showing results (591-600 of 606) with videos related to

Sort By:
Pageof 61
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
The Journal of Allergy and Clinical Immunology|April 26, 2024
Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensusAvner Reshef, Thomas Buttgereit, Stephen D Betschel, et al.
Allergy|December 7, 2020
The global impact of the COVID-19 pandemic on the management and course of chronic urticariaEmek Kocatürk, Andaç Salman, Ivan Cherrez-Ojeda, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndromeSarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Clinical and Translational Allergy|September 25, 2023
A concept for integrated care pathways for atopic dermatitis-A GA<sup>2</sup> LEN ADCARE initiativeTorsten Zuberbier, Amir Abdul Latiff, Xenofon Aggelidis, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
The Journal of Allergy and Clinical Immunology|August 13, 2023
Urticaria exacerbations and adverse reactions in patients with chronic urticaria receiving COVID-19 vaccination: Results of the UCARE COVAC-CU studyEmek Kocatürk, Pascale Salameh, Esra Sarac, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Pageof 61