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Familial Cancer|September 2, 2004
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancerFred H Menko, Gertjan L Kaspers, Gerrit A Meijer, et al.European Journal of Medical Research|June 19, 2008
Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B geneF A B A Schuerman, M Griese, J P Gille, et al.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.Journal of Physics. Condensed Matter : an Institute of Physics Journal|October 11, 2011
Pseudomorphy, surface alloys and the role of elementary clusters on the domain orientations in the Cu/Al13Co4(100) systemR Addou, A K Shukla, M-C de Weerd, et al.Pageof 18