Sex ratios of affected and transmitting members of multiple case families with neural tube defects.

por Mariman, E C, Hamel, B C
Publicado em 1992

The p63 gene in EEC and other syndromes

por Brunner, H, Hamel, B, van Bokhoven, H
Publicado em 2002

An Exploratory Data Analysis System for Support in Medical Decision-Making

por Copeland, J. A., Hamel, B., Bourne, J. R.
Publicado em 1979

Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

por Rump, R, Hamel, B C, Pinckers, A J, van Dop, P A
Publicado em 1997

Intestinal pseudo-obstruction in myotonic dystrophy.

por Brunner, H G, Hamel, B C, Rieu, P, Höweler, C J, Peters, F T
Publicado em 1992

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

por Pérez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C., Francke, U.
Publicado em 1996

Down-Turner syndrome: case report and review.

por Van Buggenhout, G J, Hamel, B C, Trommelen, J C, Mieloo, H, Smeets, D F
Publicado em 1994

Marfan syndrome masked by Down syndrome?

por Vis, J.C., van Engelen, K., Timmermans, J., Hamel, B.C., Mulder, B.J.M.
Publicado em 2009

Oculocerebrocutaneous syndrome.

por Bleeker-Wagemakers, L M, Hamel, B C, Hennekam, R C, Beemer, F A, Oorthuys, H W
Publicado em 1990

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

por Hamel, B., Wesseling, P., Renier, W., van den Helm, B., Ropers, H., Kremer, H., Mariman, E.
Publicado em 1999

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

por Ali, A. M., Mbwasi, R. M., Kinabo, G., Kamsteeg, E.-J., Hamel, B. C., Dekker, M. C. J.
Publicado no Case Rep Genet (2017)

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

por Verzijl, H T, van den Helm, B, Veldman, B, Hamel, B C, Kuyt, L P, Padberg, G W, Kremer, H
Publicado em 1999

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

por Bienvenu, T, Poirier, K, Van Esch, H, Hamel, B, Moraine, C, Fryns, J, Ropers, H, Beldjord, C, Yntema, H, Chelly, J
Publicado em 2003

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

por de Vries, J., Yntema, J. L., van Die, C. E., Crama, N., Cornelissen, E. A. M., Hamel, B. C. J.
Publicado em 2009

Adult Phenotypes in Angelman- and Rett-Like Syndromes

por Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T.
Publicado em 2012

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

por Hol, F A, Hamel, B C, Geurds, M P, Mullaart, R A, Barr, F G, Macina, R A, Mariman, E C
Publicado em 1995

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

por Hamel, B C, Raams, A, Schuitema-Dijkstra, A R, Simons, P, van der Burgt, I, Jaspers, N G, Kleijer, W J
Publicado em 1996

Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects

por Klootwijk, R, Hol, F, Wu, M, Willemen, J, Groenen, P, Hamel, B, Straatman, H, Steegers-Theuniss..., R, Mariman, E, Franke, B
Publicado em 2003

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

por BONGERS, E., VAN BOKHOVEN, H., VAN THIENEN, M.-N., KOOYMAN, M., VAN BEERSUM, S. E C, BOETES, C., KNOERS, N., HAMEL, B.
Publicado em 2001

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

por Ballabio, A, Bardoni, B, Carrozzo, R, Andria, G, Bick, D, Campbell, L, Hamel, B, Ferguson-Smith, M A, Gimelli, G, Fraccaro, M
Publicado em 1989