E K Bijlsma - JoVE Visualize

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Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|June 15, 2007

Increased nuchal translucency thickness and normal karyotype: time for parental reassuranceC M Bilardo, M A Müller, E Pajkrt, et al.

Genes, Chromosomes & Cancer|August 1, 1995

Molecular analysis of genetic changes in ependymomasE K Bijlsma, A M Voesten, E H Bijleveld, et al.

Genes, Chromosomes & Cancer|October 1, 1993

Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2E K Bijlsma, O Delattre, J A Juyn, et al.

Human Genetics|July 1, 1995

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 geneE K Bijlsma, P Merel, P Fleury, et al.

Journal of Medical Genetics|August 28, 1999

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotypeE K Bijlsma, C M Aalfs, S Sluitjer, et al.

Human Genetics|May 26, 2025

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview studyMax J Rensink, M H N Schermer, A Tibben, et al.

Human Molecular Genetics|April 18, 1998

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2A De Klein, P H Riegman, E K Bijlsma, et al.

Genes, Chromosomes & Cancer|July 1, 1995

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomasP Mérel, K Hoang-Xuan, M Sanson, et al.

Clinical Genetics|November 10, 2012

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the NetherlandsM C van Rij, C E M de Die-Smulders, E K Bijlsma, et al.

Journal of Medical Genetics|August 6, 2002

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experienceC D M van Karnebeek, C Koevoets, S Sluijter, et al.

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Showing results (11-20 of 29) with videos related to

Sort By:

Pageof 3

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|June 15, 2007

Increased nuchal translucency thickness and normal karyotype: time for parental reassuranceC M Bilardo, M A Müller, E Pajkrt, et al.

Genes, Chromosomes & Cancer|August 1, 1995

Molecular analysis of genetic changes in ependymomasE K Bijlsma, A M Voesten, E H Bijleveld, et al.

Genes, Chromosomes & Cancer|October 1, 1993

Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2E K Bijlsma, O Delattre, J A Juyn, et al.

Human Genetics|July 1, 1995

Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 geneE K Bijlsma, P Merel, P Fleury, et al.

Journal of Medical Genetics|August 28, 1999

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotypeE K Bijlsma, C M Aalfs, S Sluitjer, et al.

Human Genetics|May 26, 2025

Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview studyMax J Rensink, M H N Schermer, A Tibben, et al.

Human Molecular Genetics|April 18, 1998

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2A De Klein, P H Riegman, E K Bijlsma, et al.

Genes, Chromosomes & Cancer|July 1, 1995

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomasP Mérel, K Hoang-Xuan, M Sanson, et al.

Clinical Genetics|November 10, 2012

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the NetherlandsM C van Rij, C E M de Die-Smulders, E K Bijlsma, et al.

Journal of Medical Genetics|August 6, 2002

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experienceC D M van Karnebeek, C Koevoets, S Sluijter, et al.

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