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Clinical Genetics|April 5, 2023
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide studyAnne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, et al.
NPJ Genomic Medicine|July 3, 2019
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancerBirgitte Bertelsen, Ida Viller Tuxen, Christina Westmose Yde, et al.
Familial Cancer|June 24, 2023
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide studyAnne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, et al.
Human Mutation|November 24, 2021
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiencyAstrid Sehested, Julia Meade, David Scheie, et al.
Biological Psychiatry|October 8, 2015
Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European CohortBirgitte Bertelsen, Hreinn Stefánsson, Lars Riff Jensen, et al.
Cancers|January 30, 2020
The Spectrum of <i>FANCM</i> Protein Truncating Variants in European Breast Cancer CasesGisella Figlioli, Anders Kvist, Emma Tham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 14, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer RiskLenka Stolarova, Petra Kleiblova, Petra Zemankova, et al.
Cancer Research|November 15, 2019
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and AggressivenessVivek L Patel, Evan L Busch, Tara M Friebel, et al.
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