de Die-Smulders C E M - Department of Clinical Genetics, Academic Hospital Maastricht

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论文共 26 篇作者统计合作学者相似作者

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The Unfolding Clinical Spectrum of POLG Mutations

M. J. Blok, B. J. van den Bosch, E. Jongen, A. Hendrickx,C. E. de Die-Smulders,J. E. Hoogendijk,E. Brusse,M. de Visser,B. T. Poll-The,J. Bierau,I. F. de Coo,H. J. Smeets

Journal of medical geneticsno. 11 (2009): 776-785

引用82浏览0WOS引用

Marden-Walker Syndrome: Case Report, Literature Review and Nosologic Discussion

C SCHRANDERSTUMPEL,C DEDIESMULDERS, M DEKROM, S SCHYNSFLEUREN,B HAMEL,D JAEKEN,JP FRYNS

Clinical genetics（2008）

引用26浏览0WOS引用

Identification of a Novel EYA1 Mutation Presenting in a Newborn with Laryngomalacia, Glossoptosis, Retrognathia, and Pectus Excavatum

Liesbeth Spruijt,Lies H. Hoefsloot,G.H.W.H. van Schaijk,Dick van Waardenburg, B. Kremer, Hein Brackel,Christine E.M. de Die-Smulders

American journal of medical genetics Part A（2006）

引用11浏览0引用

A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

Liesbeth Spruijt,Pieter Verdyck,Wim Van Hul,Wim Wuyts,Christine de Die-Smulders

American Journal of Medical Genetics Part Ano. 1 (2005): 45-47

引用9浏览0引用

De Novo Mosaic 46,xx,del(3)(q21q25)/46,xx Karyotype in a Patient with BPES

JJM Engelen,CEM De Die-Smulders, E Back

GENETIC COUNSELING（2002）

引用26浏览0引用

Lateral Facial Clefts: a Case Report

CEM de Die-Smulders,U Moog,JJM Engelen, JJM Peters, A Damen, W Vos, JP Fryns

PubMed（2001）

引用28浏览0WOS引用

Phenotypic Variability of the Cat Eye Syndrome. Case Report and Review of the Literature

PPR Rosias,JMJ Sijstermans,PMVM Theunissen,CFM Pulles-Heintzberger,CEM De Die-Smulders,JJM Engelen, SB Van Der Meer

PubMed（2001）

引用96浏览0WOS引用

Holoprosencephaly: The Maastricht Experience

U Moog,C E De Die-Smulders,C T Schrander-Stumpel,J J Engelen,A J Hamers,S Frints, J P Fryns

GENETIC COUNSELING（2001）

引用47浏览0WOS引用

14Q Terminal Deletion: Prenatal Diagnosis in a Child with Severe Congenital Anomalies

DJLM Mertens,CEM De Die-Smulders, PHNM Kampschoer,JPM Offermans,JJM Engelen,AJH Hamers,M Lammens,CTRM Schrander-Stumpel

PubMedno. 4 (2000): 341-6

引用28浏览0WOS引用

Prenatally Detected Marker Chromosome Identified As an I(22)(P10) Using (Micro)fish

JJM Engelen, JHAM Tuerlings,JCM Albrechts,CTRM Schrander-Stumpel,AJH Hamers,CEM De Die-Smulders

GENETIC COUNSELING（2000）

引用28浏览0WOS引用

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