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Michael Zech

Showing results (181-190 of 196) with videos related to

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Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 20

Showing results (181-190 of 196) with videos related to

Sort By:
Pageof 20
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 20