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Richard H Scott

Showing results (11-20 of 56) with videos related to

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Clinical Medicine (London, England)|July 17, 2019
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcareKatherine S Josephs, Alison Berner, Angela George, et al.
Prenatal Diagnosis|August 16, 2015
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalitiesSuzanne Drury, Hywel Williams, Natalie Trump, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 22, 2020
An online compendium of treatable genetic disordersDavid Bick, Sarah L Bick, David P Dimmock, et al.
Developmental Medicine and Child Neurology|December 10, 2015
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathyApostolos Papandreou, Amy McTague, Natalie Trump, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationSuzanne Drury, Christopher Boustred, Mehmet Tekman, et al.
Journal of Medical Genetics|July 3, 2007
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutationsRichard H Scott, Tessa Homfray, Nicola L Huxter, et al.
Nature Medicine|June 19, 2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseasesEmma L Baple, Richard H Scott, Siddharth Banka, et al.
Blood Advances|March 16, 2018
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopeniaManuela Germeshausen, Phil Ancliff, Jaime Estrada, et al.
Clinical Dysmorphology|September 30, 2017
Contiguous gene deletion of TBX5 and TBX3: report of another caseFrancesca Forzano, Patricia A Foley, Morgan R Keane, et al.
International Journal of Neonatal Screening|July 27, 2022
Newborn Screening by Genomic Sequencing: Opportunities and ChallengesDavid Bick, Arzoo Ahmed, Dasha Deen, et al.
Pageof 6

Showing results (11-20 of 56) with videos related to

Sort By:
Pageof 6
Clinical Medicine (London, England)|July 17, 2019
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcareKatherine S Josephs, Alison Berner, Angela George, et al.
Prenatal Diagnosis|August 16, 2015
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalitiesSuzanne Drury, Hywel Williams, Natalie Trump, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 22, 2020
An online compendium of treatable genetic disordersDavid Bick, Sarah L Bick, David P Dimmock, et al.
Developmental Medicine and Child Neurology|December 10, 2015
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathyApostolos Papandreou, Amy McTague, Natalie Trump, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationSuzanne Drury, Christopher Boustred, Mehmet Tekman, et al.
Journal of Medical Genetics|July 3, 2007
Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutationsRichard H Scott, Tessa Homfray, Nicola L Huxter, et al.
Nature Medicine|June 19, 2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseasesEmma L Baple, Richard H Scott, Siddharth Banka, et al.
Blood Advances|March 16, 2018
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopeniaManuela Germeshausen, Phil Ancliff, Jaime Estrada, et al.
Clinical Dysmorphology|September 30, 2017
Contiguous gene deletion of TBX5 and TBX3: report of another caseFrancesca Forzano, Patricia A Foley, Morgan R Keane, et al.
International Journal of Neonatal Screening|July 27, 2022
Newborn Screening by Genomic Sequencing: Opportunities and ChallengesDavid Bick, Arzoo Ahmed, Dasha Deen, et al.
Pageof 6