M. Breuning

发表

Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients

J. Haan, J. V. van Gestel, R. Frants, 1999, Neurology.

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures

M. Visser, H. Ginjaar, A. V. D. Enden, 2003, Neuromuscular Disorders.

Duplications in the DMD gene

J. T. Dunnen, R. Weiss, K. Flanigan, 2006, Human mutation.

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13

S. Seal, M. Stratton, R. Siebert, 2000, Human Genetics.

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

D. Peters, Edgar Almeida, J. Lavinha, 1995, Human Genetics.

Bifurcation of the femur with tibial agenesis and additional anomalies

A. Haeringen, P. Hogendoorn, M. Breuning, 2005, American journal of medical genetics. Part A.

Radiographic Evaluation of Children with Growth Disorders

H. Zonderland, H. Zonderland, J. Wit, 2007, Hormone Research in Paediatrics.

First‐trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

B. D. de Vries, C. Catsman-Berrevoets, M. Losekoot, 1999, Prenatal diagnosis.

Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16.

K. Davies, P. Pearson, D. Weatherall, 1986, British medical journal.

Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1

K. Friend, T. Keith, G. Sutherland, 1990, Human Genetics.