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Peter Krawitz

Showing results (71-80 of 101) with videos related to

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European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
European Journal of Human Genetics : EJHG|May 2, 2023
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndromeGholson J Lyon, Marall Vedaie, Travis Beisheim, et al.
Science Translational Medicine|September 5, 2014
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeTomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
American Journal of Human Genetics|March 19, 2013
Mutations in WNT1 cause different forms of bone fragilityKatharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.
Molecular Genetics & Genomic Medicine|December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scoresNina Ishorst, Leonie Henschel, Frederic Thieme, et al.
HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
Pageof 11

Showing results (71-80 of 101) with videos related to

Sort By:
Pageof 11
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
European Journal of Human Genetics : EJHG|May 2, 2023
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndromeGholson J Lyon, Marall Vedaie, Travis Beisheim, et al.
Science Translational Medicine|September 5, 2014
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeTomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
American Journal of Human Genetics|March 19, 2013
Mutations in WNT1 cause different forms of bone fragilityKatharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.
Molecular Genetics & Genomic Medicine|December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scoresNina Ishorst, Leonie Henschel, Frederic Thieme, et al.
HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
Pageof 11