Showing results (111-120 of 137) with videos related to

Sort By:
Pageof 14
Journal of Medical Genetics|April 18, 2013
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensionWilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, et al.
Clinical Genetics|May 31, 2008
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genesF H Menko, C M F Kneepkens, N de Leeuw, et al.
BMJ Open|October 9, 2024
Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2Maartje A C Schreurs, Muriel A Adank, Antoinette Hollestelle, et al.
Gastroenterology|June 10, 2004
Relative frequency and morphology of cancers in STK11 mutation carriersWendy Lim, Sylviane Olschwang, Josbert J Keller, et al.
Genes, Chromosomes & Cancer|May 9, 2024
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndromeAnne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Mandy Villasmil, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|June 12, 2023
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant CarriersAnne-Sophie van der Werf-'t Lam, Diantha Terlouw, Carli M Tops, et al.
Journal of Human Genetics|January 4, 2023
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 geneIrma van de Beek, Iris E Glykofridis, Michael W T Tanck, et al.
European Journal of Cancer (Oxford, England : 1990)|November 16, 2025
Cancer risks for MSH6 pathogenic variant carriersAnne-Sophie van der Werf-'t Lam, James G Dowty, Morrison Italia, et al.
Journal of Medical Genetics|August 3, 2006
STK11 status and intussusception risk in Peutz-Jeghers syndromeN Hearle, V Schumacher, F H Menko, et al.
Neurobiology of Disease|February 3, 2007
Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams SyndromeJ M van Hagen, J N van der Geest, R S van der Giessen, et al.
Pageof 14