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Birth Defects Research
|
December 24, 2016
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, et al.
Annals of Human Genetics
|
November 7, 2012
Anorectal atresia and variants at predicted regulatory sites in candidate genes
Tonia C Carter, Denise M Kay, Marilyn L Browne, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2007
The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
Anne Parle-McDermott, Faith Pangilinan, James L Mills, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 1, 2016
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance
A B Ozel, B McGee, D Siemieniak, et al.
Journal of Human Genetics
|
June 1, 2012
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation
Tonia C Carter, Denise M Kay, Marilyn L Browne, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2008
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population
Faith Pangilinan, Kerry Geiler, Jessica Dolle, et al.
American Journal of Medical Genetics. Part A
|
December 1, 2016
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, et al.
American Journal of Human Genetics
|
October 18, 2002
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group
Lawrence C Brody, Mary Conley, Christopher Cox, et al.
Current Protocols in Human Genetics
|
January 12, 2017
Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing
Beth A Marosy, Brian D Craig, Kurt N Hetrick, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population
Tonia C Carter, Faith Pangilinan, James F Troendle, et al.
Page
of 24
Search research articles
Search
Showing results (171-180 of 234) with videos related to
Sort By:
Page
of 24
Birth Defects Research
|
December 24, 2016
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, et al.
Annals of Human Genetics
|
November 7, 2012
Anorectal atresia and variants at predicted regulatory sites in candidate genes
Tonia C Carter, Denise M Kay, Marilyn L Browne, et al.
American Journal of Medical Genetics. Part A
|
May 9, 2007
The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population
Anne Parle-McDermott, Faith Pangilinan, James L Mills, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 1, 2016
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance
A B Ozel, B McGee, D Siemieniak, et al.
Journal of Human Genetics
|
June 1, 2012
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation
Tonia C Carter, Denise M Kay, Marilyn L Browne, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2008
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population
Faith Pangilinan, Kerry Geiler, Jessica Dolle, et al.
American Journal of Medical Genetics. Part A
|
December 1, 2016
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, et al.
American Journal of Human Genetics
|
October 18, 2002
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group
Lawrence C Brody, Mary Conley, Christopher Cox, et al.
Current Protocols in Human Genetics
|
January 12, 2017
Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing
Beth A Marosy, Brian D Craig, Kurt N Hetrick, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population
Tonia C Carter, Faith Pangilinan, James F Troendle, et al.
Page
of 24