J. V. Bokhoven

发表

The (cid:2) -Defensin Gallinacin-6 Is Expressed in the Chicken Digestive Tract and Has Antimicrobial Activity against Food-Borne Pathogens (cid:1)

R. Romijn, E. Veldhuizen, H. Haagsman, 2007 .

Identification of chicken cathelicidin-2 core elements involved in antibacterial and immunomodulatory activities.

F. Bikker, E. Veldhuizen, H. Haagsman, 2009, Molecular immunology.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

F. Muntoni, H. Brunner, W. Dobyns, 2004, Journal of Medical Genetics.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

C. Schwartz, S. Lenzner, H. Van Esch, 2005, Journal of Medical Genetics.

The p63 gene in EEC and other syndromes

H. Brunner, H. van Bokhoven, B. Hamel, 2002, Journal of medical genetics.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

C. Woods, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

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

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

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

J. Murray, H. van Bokhoven, R. Gorlin, 2002, Journal of medical genetics.

Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease

M. Bayés, H. Brunner, R. Gershoni-baruch, 2001, Neurology.

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

T. Kleefstra, H. van Bokhoven, E. Sistermans, 2002, Clinical genetics.

Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder

H. van Bokhoven, H. Scheffer, R. Meijer, 2004, Clinical genetics.

Coeliac disease in twins

R. Gorlin, S. Daack-Hirsch, J. V. Bokhoven, 2002, Journal of medical genetics.

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

S. Çırak, T. Voit, T. Willer, 2010, Neurology.