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European Journal of Human Genetics : EJHG|July 1, 1997
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotypeR M Hofstra, J Osinga, C H BuysNederlands Tijdschrift Voor Geneeskunde|January 5, 2002
[From gene to disease; from the RET gene to multiple endocrine neoplasia types 2A and 2B, sporadic and familial medullary thyroid carcinoma, Hirschsprung disease and papillary thyroid carcinoma]R M Hofstra, R B van der Luijt, C J LipsJournal of Child Neurology|May 11, 2000
Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalusL Sztriha, P Frossard, R M Hofstra, et al.Journal of Medical Genetics|October 21, 1999
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotypeR Hordijk, H Wierenga, H Scheffer, et al.Nucleic Acids Research|August 24, 1999
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGEY Wu, R P Stulp, P Elfferich, et al.Developmental Biology|June 21, 2016
Epigenetics in ENS development and Hirschsprung diseaseA Torroglosa, M M Alves, R M Fernández, et al.Human Mutation|January 1, 1996
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresisY Wu, R M Hofstra, H Scheffer, et al.Journal of Medical Genetics|April 16, 1999
A Hirschsprung disease locus at 22q11?W S Kerstjens-Frederikse, R M Hofstra, A J van Essen, et al.Community Genetics|June 8, 2004
Preconceptional screening of couples for carriers of cystic fibrosis: a prospective evaluation of effects, costs and savings for different mutation detection methodsJ B Verheij, M F Wildhagen, R M Hofstra, et al.Annals of Hematology|November 22, 1997
Absence of mutations in the RET gene in acute myeloid leukemiaM Visser, R M Hofstra, R P Stulp, et al.Pageof 6