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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.
Human Reproduction (Oxford, England)
|
September 23, 2022
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing
Wanwisa van Dijk, Kasper Derks, Marion Drüsedau, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
March 16, 2013
Epstein-Barr virus DNA load in nasopharyngeal brushings and whole blood in nasopharyngeal carcinoma patients before and after treatment
Marlinda Adham, Astrid E Greijer, Sandra A W M Verkuijlen, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome
Servi J C Stevens, Eric E J G L Smeets, Naomi van den Broek, et al.
Genome Medicine
|
December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 10, 2014
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
Senthilkumar A Natesan, Alex J Bladon, Serdar Coskun, et al.
Annals of Neurology
|
July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development
Konrad Platzer, Benjamin Cogné, Jennifer Hague, et al.
Clinical Genetics
|
October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene
Servi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.
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of 25
Search research articles
Search
Showing results (211-220 of 247) with videos related to
Sort By:
Page
of 25
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.
Human Reproduction (Oxford, England)
|
September 23, 2022
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing
Wanwisa van Dijk, Kasper Derks, Marion Drüsedau, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
March 16, 2013
Epstein-Barr virus DNA load in nasopharyngeal brushings and whole blood in nasopharyngeal carcinoma patients before and after treatment
Marlinda Adham, Astrid E Greijer, Sandra A W M Verkuijlen, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome
Servi J C Stevens, Eric E J G L Smeets, Naomi van den Broek, et al.
Genome Medicine
|
December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
Servi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 10, 2014
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
Senthilkumar A Natesan, Alex J Bladon, Serdar Coskun, et al.
Annals of Neurology
|
July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development
Konrad Platzer, Benjamin Cogné, Jennifer Hague, et al.
Clinical Genetics
|
October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene
Servi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.
Page
of 25