B. Hamel

发表

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

A. De Paepe, L. Messiaen, K. Sermon, 2002, Prenatal diagnosis.

Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

B. Hamel, U. Wendel, W. Ruitenbeek, 1996, Journal of Inherited Metabolic Disease.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, 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.

Immunological tolerance in an HLA non-identical chimeric twin.

F. Claas, D. Smeets, B. Hamel, 2000, Human immunology.

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

L. Lagae, H. Brunner, Y. Crow, 2005, Journal of Medical Genetics.

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

E. Bongers, C. Boetes, H. van Bokhoven, 2001, Journal of medical genetics.

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

K. Méhes, B. Hamel, B. Hamel, 1995, Human molecular genetics.

Maternal uniparental disomy 7 – review and further delineation of the phenotype

K. Chrzanowska, B. Hamel, A. Schinzel, 2000, European Journal of Pediatrics.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

R Pfundt, R. Pfundt, N. de Leeuw, 2008, Journal of Medical Genetics.

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay

M. Nöthen, B. Hamel, B. Hamel, 2011, The British journal of dermatology.

The p63 gene in EEC and other syndromes

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

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

L. Messiaen, K. Sermon, B. Loeys, 2002, Prenatal diagnosis.

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation.

G. Pals, M. P. van den Berg, B. Mulder, 2010, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.