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Showing results (11-20 of 25) with videos related to

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Journal of Medical Genetics|November 21, 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i>Helen Hanson, Anjana Kulkarni, Lucy Loong, et al.
British Journal of Cancer|February 20, 2022
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health serviceEamonn R Maher, Julian Adlard, Julian Barwell, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
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Showing results (11-20 of 25) with videos related to

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Journal of Medical Genetics|November 21, 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i>Helen Hanson, Anjana Kulkarni, Lucy Loong, et al.
British Journal of Cancer|February 20, 2022
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health serviceEamonn R Maher, Julian Adlard, Julian Barwell, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
Pageof 3