C. van den Elzen

发表

A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum

J. van Reeuwijk, T. Roscioli, H. van Bokhoven, 2010, Clinical genetics.

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.

E. Fliers, D. Swaab, E. Endert, 2011, European journal of endocrinology.

The expanding phenotype of POMT1 mutations: from Walker‐Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

E. Bertini, F. Muntoni, H. Brunner, 2006, Human mutation.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

Constitutional DNA copy number changes in ICSI children.

J. Hehir-Kwa, I. Janssen, E. Schoenmakers, 2008, Human reproduction.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

W. Halliday, K. Buysse, D. Stemple, 2013, Human molecular genetics.

Estimation of the number of infectious measles viruses in live virus vaccines using quantitative real-time PCR.

C. Baas, J. Schalk, H. Ovelgönne, 2004, Journal of virological methods.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

J. Hofsteenge, R. Wevers, K. Verrijp, 2009, American journal of human genetics.

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

R. Rodenburg, B. Engelen, J. Smeitink, 2007, European Journal of Human Genetics.

A homozygous FKRP start codon mutation is associated with Walker–Warburg syndrome, the severe end of the clinical spectrum

J. van Reeuwijk, T. Roscioli, H. van Bokhoven, 2010, Clinical genetics.