Showing results (31-40 of 103) with videos related to
Sort By:
Pageof 11
BMC Medical Genetics|March 3, 2006
The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populationsTeresa M Rudkin, Nancy Hamel, Maria Galvez, et al.Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|October 25, 2011
Genetic counselling for pulmonary arterial hypertension: a matter of variable variabilityE M Leter, A B Boonstra, F B Postma, et al.Journal of Clinical Pathology|October 2, 2002
Multiple fibroadenomas harbouring carcinoma in situ in a woman with a family history of breast/ovarian cancerA Kuijper, S S Preisler-Adams, F D Rahusen, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 9, 2005
An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutationMei Lan Kwee, Wendy Balemans, Erna Cleiren, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 18, 2018
Possible hints and pitfalls in diagnosing Peutz-Jeghers syndromeJudith S Renes, Jeroen Knijnenburg, Sharmila Chitoe-Ramawadhdoebe, et al.American Journal of Medical Genetics. Part A|July 21, 2004
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutationM L Kwee, J A van de Sluijs, J M G van Vugt, et al.Journal of Inherited Metabolic Disease|February 4, 2012
Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011Martina C Cornel, Johan J P Gille, J Gerard Loeber, et al.Nederlands Tijdschrift Voor Geneeskunde|February 4, 2005
[From gene to disease: basal cell naevus syndrome]T G J de Meij, M J H Baars, J J P Gille, et al.American Journal of Medical Genetics. Part A|July 15, 2005
Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literatureM H de Ru, J J P Gille, A W M Nieuwint, et al.Genes & Cancer|August 16, 2013
Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian CancersMin Peng, Janine L Bakker, Richard A Dicioccio, et al.Pageof 11