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American Journal of Medical Genetics. Part A
|
December 4, 2004
Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients
John J M Engelen, Wim H Loneus, Gerrie Vaes-Peeters, et al.
Chromosoma
|
August 10, 2011
Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres
Dan Hasson, Alicia Alonso, Fanny Cheung, et al.
Clinical Dysmorphology
|
January 7, 2003
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma
Ute Moog, John J M Engelen, Henny M J van Schrojenstein Lantman-de Valk, et al.
Cancer Genetics and Cytogenetics
|
July 17, 2010
A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL
Servi J C Stevens, Laurence E C Meers, Jozefa C M Albrechts, et al.
European Journal of Human Genetics : EJHG
|
May 13, 2010
Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly
Margje Sinnema, Kees E P van Roozendaal, Marian A Maaskant, et al.
American Journal of Medical Genetics. Part A
|
September 3, 2009
Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis
Servi J C Stevens, Eric E J G L Smeets, Eveline Blom, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2012
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
Chris M J van Uum, Servi J C Stevens, Joseph C F M Dreesen, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2011
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
Servi J C Stevens, Conny M A van Ravenswaaij-Arts, Jannie W H Janssen, et al.
Prenatal Diagnosis
|
June 27, 2021
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study
Maurike de Groot-van der Mooren, Gert de Graaf, Michel E Weijerman, et al.
European Journal of Human Genetics : EJHG
|
June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
Aimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
American Journal of Medical Genetics. Part A
|
December 4, 2004
Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients
John J M Engelen, Wim H Loneus, Gerrie Vaes-Peeters, et al.
Chromosoma
|
August 10, 2011
Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres
Dan Hasson, Alicia Alonso, Fanny Cheung, et al.
Clinical Dysmorphology
|
January 7, 2003
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma
Ute Moog, John J M Engelen, Henny M J van Schrojenstein Lantman-de Valk, et al.
Cancer Genetics and Cytogenetics
|
July 17, 2010
A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL
Servi J C Stevens, Laurence E C Meers, Jozefa C M Albrechts, et al.
European Journal of Human Genetics : EJHG
|
May 13, 2010
Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly
Margje Sinnema, Kees E P van Roozendaal, Marian A Maaskant, et al.
American Journal of Medical Genetics. Part A
|
September 3, 2009
Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis
Servi J C Stevens, Eric E J G L Smeets, Eveline Blom, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2012
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
Chris M J van Uum, Servi J C Stevens, Joseph C F M Dreesen, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2011
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
Servi J C Stevens, Conny M A van Ravenswaaij-Arts, Jannie W H Janssen, et al.
Prenatal Diagnosis
|
June 27, 2021
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study
Maurike de Groot-van der Mooren, Gert de Graaf, Michel E Weijerman, et al.
European Journal of Human Genetics : EJHG
|
June 10, 2010
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
Aimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, et al.
Page
of 1