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Michael Field

Showing results (111-120 of 136) with videos related to

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The American Journal of Gastroenterology|April 25, 2012
Cancer risks for relatives of patients with serrated polyposisAung Ko Win, Rhiannon J Walters, Daniel D Buchanan, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseasesYue Li, Marita Führer, Ehsan Bahrami, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Plos One|July 28, 2010
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinicsDaniel D Buchanan, Kevin Sweet, Musa Drini, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMichael Field, Patrick S Tarpey, Raffaella Smith, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Gastroenterology|June 23, 2026
BIRC3 (Encoding Cellular Inhibitor of Apoptosis Protein 2) Variants Result in Dysregulated Receptor-Interacting Protein Kinase 1 Signaling Leading to Increased Epithelial Cell Death and Are Associated With Monogenic Crohn's DiseaseQi Li, Ryusuke Nambu, Hu Yaqiang, et al.
Pageof 14

Showing results (111-120 of 136) with videos related to

Sort By:
Pageof 14
The American Journal of Gastroenterology|April 25, 2012
Cancer risks for relatives of patients with serrated polyposisAung Ko Win, Rhiannon J Walters, Daniel D Buchanan, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseasesYue Li, Marita Führer, Ehsan Bahrami, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Plos One|July 28, 2010
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinicsDaniel D Buchanan, Kevin Sweet, Musa Drini, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMichael Field, Patrick S Tarpey, Raffaella Smith, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Gastroenterology|June 23, 2026
BIRC3 (Encoding Cellular Inhibitor of Apoptosis Protein 2) Variants Result in Dysregulated Receptor-Interacting Protein Kinase 1 Signaling Leading to Increased Epithelial Cell Death and Are Associated With Monogenic Crohn's DiseaseQi Li, Ryusuke Nambu, Hu Yaqiang, et al.
Pageof 14