Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

E J Breslau-Siderius

Showing results (1-10 of 10) with videos related to

Pageof 1
Sort By:
Clinical Genetics|November 1, 1996
Unbalanced karyotype, dup 14(q13-q22), in a mother and her two childrenM L Pot, J C Giltay, A van Wilsen, et al.
Journal of Pediatric Orthopedics. Part B|March 3, 1998
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contracturesE J Breslau-Siderius, R H Engelbert, G Pals, et al.
American Journal of Medical Genetics|October 1, 1992
Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndromeE J Breslau-Siderius, J Toonstra, J A Baart, et al.
American Journal of Medical Genetics|January 1, 1991
The Rapp-Hodgkin syndromeE J Breslau-Siderius, A P Lavrijsen, F W Otten, et al.
Prenatal Diagnosis|December 1, 1991
A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature reviewA C van Oppen, E J Breslau-Siderius, P Stoutenbeek, et al.
European Journal of Pediatrics|July 17, 1998
Atelencephalic microcephaly: a case report and review of the literatureP F Ippel, E J Breslau-Siderius, W W Hack, et al.
Human Genetics|November 1, 1993
Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomaliesE J Breslau-Siderius, J T Wijnen, J G Dauwerse, et al.
Prenatal Diagnosis|February 1, 1997
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 hybridizationS L van Zelderen-Bhola, E J Breslau-Siderius, G C Beverstock, et al.
Archives of Dermatology|June 2, 1998
Restrictive dermopathy. Report of 12 cases. Dutch Task Force on GenodermatologyJ H Smitt, C J van Asperen, C M Niessen, et al.
Human Mutation|January 1, 1997
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?M H Cnossen, M N van der Est, M H Breuning, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Clinical Genetics|November 1, 1996
Unbalanced karyotype, dup 14(q13-q22), in a mother and her two childrenM L Pot, J C Giltay, A van Wilsen, et al.
Journal of Pediatric Orthopedics. Part B|March 3, 1998
Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contracturesE J Breslau-Siderius, R H Engelbert, G Pals, et al.
American Journal of Medical Genetics|October 1, 1992
Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndromeE J Breslau-Siderius, J Toonstra, J A Baart, et al.
American Journal of Medical Genetics|January 1, 1991
The Rapp-Hodgkin syndromeE J Breslau-Siderius, A P Lavrijsen, F W Otten, et al.
Prenatal Diagnosis|December 1, 1991
A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature reviewA C van Oppen, E J Breslau-Siderius, P Stoutenbeek, et al.
European Journal of Pediatrics|July 17, 1998
Atelencephalic microcephaly: a case report and review of the literatureP F Ippel, E J Breslau-Siderius, W W Hack, et al.
Human Genetics|November 1, 1993
Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomaliesE J Breslau-Siderius, J T Wijnen, J G Dauwerse, et al.
Prenatal Diagnosis|February 1, 1997
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 hybridizationS L van Zelderen-Bhola, E J Breslau-Siderius, G C Beverstock, et al.
Archives of Dermatology|June 2, 1998
Restrictive dermopathy. Report of 12 cases. Dutch Task Force on GenodermatologyJ H Smitt, C J van Asperen, C M Niessen, et al.
Human Mutation|January 1, 1997
Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?M H Cnossen, M N van der Est, M H Breuning, et al.
Pageof 1