E. Breslau‐Siderius

发表

Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1?

C. V. van Asperen, A. V. D. van den Ouweland, M. Breuning, 1997, Human mutation.

Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies

F. Beemer, J. Wijnen, P. Khan, 1993, Human Genetics.

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION

L. D. de Vries, P. Stoutenbeek, G. Beverstock, 1997, Prenatal diagnosis.

A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature review

P. Stoutenbeek, J. Merkus, A. V. van Oppen, 1991, Prenatal diagnosis.

Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two children

J. Giltay, E. Breslau‐Siderius, M. L. H. Pot, 1996, Clinical genetics.

Restrictive Dermopathy: Report of 12 Cases

F. Beemer, P. Steijlen, P. Tamminga, 1998 .

Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology.

C. V. van Asperen, F. Beemer, P. Steijlen, 1998, Archives of dermatology.

The Rapp-Hodgkin syndrome.

A. Lavrijsen, J. van der Schroeff, J. Swart, 1991, American journal of medical genetics.

Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures.

G. Pals, R. Engelbert, J. A. van der Sluijs, 1998, Journal of pediatric orthopedics. Part B.

Report of 12 Cases

F. Beemer, P. Steijlen, P. Tamminga, 2017 .

Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome.

J. A. Baart, F. Beemer, H. Koppeschaar, 1992, American journal of medical genetics.

Atelencephalic microcephaly: a case report and review of the literature

J. B. Bijlsma, P. Ippel, W. Hack, 1998, European Journal of Pediatrics.