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H Willemsen

Showing results (171-180 of 180) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Pageof 18

Showing results (171-180 of 180) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 180 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2023
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingAnne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, et al.
American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
Pageof 18