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Molecular Syndromology
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March 29, 2021
Prevalence and Phenotypic Impact of Robertsonian Translocations
Martin Poot, Ron Hochstenbach
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2010
A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
Martin Poot, Ron Hochstenbach
Molecular Cytogenetics
|
January 22, 2015
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
Wigard P Kloosterman, Ron Hochstenbach
European Journal of Human Genetics : EJHG
|
December 14, 2020
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Ron Hochstenbach, Thomas Liehr, Rosalind J Hastings
American Journal of Medical Genetics. Part A
|
September 19, 2012
Unstable transmission of a familial complex chromosome rearrangement
Ellen van Binsbergen, Ron Hochstenbach, Jacques Giltay, et al.
Clinical Dysmorphology
|
April 2, 2004
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect
E Mariken Ruiter, Jan Toorman, Ron Hochstenbach, et al.
Roux'S Archives of Developmental Biology : the Official Organ of the EDBO
|
March 18, 2017
Spermatogenesis inDrosophila hydei: A genetic survey
Johannes H P Hackstein, Heinz Beck, Ron Hochstenbach, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2004
Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism
Paulien Terhal, Ralph Sakkers, Ron Hochstenbach, et al.
American Journal of Medical Genetics
|
April 27, 2002
Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up
Annemieke S Littooij, Ron Hochstenbach, Richard J Sinke, et al.
European Journal of Medical Genetics
|
September 25, 2018
A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing
Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 51) with videos related to
Sort By:
Page
of 6
Molecular Syndromology
|
March 29, 2021
Prevalence and Phenotypic Impact of Robertsonian Translocations
Martin Poot, Ron Hochstenbach
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2010
A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
Martin Poot, Ron Hochstenbach
Molecular Cytogenetics
|
January 22, 2015
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
Wigard P Kloosterman, Ron Hochstenbach
European Journal of Human Genetics : EJHG
|
December 14, 2020
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Ron Hochstenbach, Thomas Liehr, Rosalind J Hastings
American Journal of Medical Genetics. Part A
|
September 19, 2012
Unstable transmission of a familial complex chromosome rearrangement
Ellen van Binsbergen, Ron Hochstenbach, Jacques Giltay, et al.
Clinical Dysmorphology
|
April 2, 2004
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect
E Mariken Ruiter, Jan Toorman, Ron Hochstenbach, et al.
Roux'S Archives of Developmental Biology : the Official Organ of the EDBO
|
March 18, 2017
Spermatogenesis inDrosophila hydei: A genetic survey
Johannes H P Hackstein, Heinz Beck, Ron Hochstenbach, et al.
American Journal of Medical Genetics. Part A
|
October 14, 2004
Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism
Paulien Terhal, Ralph Sakkers, Ron Hochstenbach, et al.
American Journal of Medical Genetics
|
April 27, 2002
Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up
Annemieke S Littooij, Ron Hochstenbach, Richard J Sinke, et al.
European Journal of Medical Genetics
|
September 25, 2018
A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing
Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, et al.
Page
of 6