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Jane A Hurst

Showing results (21-30 of 53) with videos related to

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Nature Genetics|September 19, 2017
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlFederico Tessadori, Jacques C Giltay, Jane A Hurst, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Genome Medicine|November 13, 2025
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplicationsYang Pei, Eduardo Calpena, Jill M Brown, et al.
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
American Journal of Medical Genetics. Part A|July 14, 2006
Clinical dividends from the molecular genetic diagnosis of craniosynostosisAndrew O M Wilkie, Elena G Bochukova, Ruth M S Hansen, et al.
American Journal of Medical Genetics. Part A|July 11, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosisAndrew O M Wilkie, Elena G Bochukova, Ruth M S Hansen, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
European Journal of Human Genetics : EJHG|June 30, 2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen, William Reardon, Elisabeth M Rosser, et al.
Brain : a Journal of Neurology|August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEmanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
American Journal of Human Genetics|May 5, 2009
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneStephen R F Twigg, Sarah L Versnel, Gudrun Nürnberg, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
Nature Genetics|September 19, 2017
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlFederico Tessadori, Jacques C Giltay, Jane A Hurst, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
Genome Medicine|November 13, 2025
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplicationsYang Pei, Eduardo Calpena, Jill M Brown, et al.
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
American Journal of Medical Genetics. Part A|July 14, 2006
Clinical dividends from the molecular genetic diagnosis of craniosynostosisAndrew O M Wilkie, Elena G Bochukova, Ruth M S Hansen, et al.
American Journal of Medical Genetics. Part A|July 11, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosisAndrew O M Wilkie, Elena G Bochukova, Ruth M S Hansen, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
European Journal of Human Genetics : EJHG|June 30, 2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen, William Reardon, Elisabeth M Rosser, et al.
Brain : a Journal of Neurology|August 23, 2015
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEmanuele Panza, Juan M Escamilla-Honrubia, Clara Marco-Marín, et al.
American Journal of Human Genetics|May 5, 2009
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox geneStephen R F Twigg, Sarah L Versnel, Gudrun Nürnberg, et al.
Pageof 6