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Human Molecular Genetics
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December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Rachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics
|
June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
Tjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Scientific Reports
|
July 2, 2016
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Mauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 10, 2021
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, et al.
Prenatal Diagnosis
|
October 19, 2018
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, et al.
Plos Genetics
|
May 29, 2007
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, et al.
American Journal of Human Genetics
|
September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
Rachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Science (New York, N.Y.)
|
January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
Anita Rauch, Christian T Thiel, Detlev Schindler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
Nina De Rocker, Sarah Vergult, David Koolen, et al.
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of 19
Search research articles
Search
Showing results (151-160 of 190) with videos related to
Sort By:
Page
of 19
Human Molecular Genetics
|
December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
Rachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics
|
June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
Tjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
Scientific Reports
|
July 2, 2016
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Mauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 10, 2021
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, et al.
Prenatal Diagnosis
|
October 19, 2018
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, et al.
Plos Genetics
|
May 29, 2007
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
Weining Lu, Fabiola Quintero-Rivera, Yanli Fan, et al.
American Journal of Human Genetics
|
September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease
Rachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Science (New York, N.Y.)
|
January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
Anita Rauch, Christian T Thiel, Detlev Schindler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
Nina De Rocker, Sarah Vergult, David Koolen, et al.
Page
of 19