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Genomic Medicine
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September 24, 2008
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene
Lyndon G Rosser, Shane McKee, David S Millar, et al.
Human Genomics
|
September 18, 2010
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
David S Millar, Carolyn Tysoe, Lazarus P Lazarou, et al.
Human Mutation
|
March 26, 2003
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
Martin Horan, David S Millar, Jürgen Hedderich, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 4, 2003
Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region
David N Cooper, Martin Horan, David S Millar, et al.
Plos One
|
December 11, 2013
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti
Rachel E Towers, Leonardo Murgiano, David S Millar, et al.
Human Genetics
|
June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research setting
Peter D Stenson, Matthew Mort, Edward V Ball, et al.
Molecular and Cellular Endocrinology
|
October 28, 2008
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population
David S Millar, Mark D Lewis, Martin Horan, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2006
NTNG1 mutations are a rare cause of Rett syndrome
Hayley L Archer, Julie C Evans, David S Millar, et al.
Human Mutation
|
September 19, 2008
A gene conversion hotspot in the human growth hormone (GH1) gene promoter
Andreas Wolf, David S Millar, Amke Caliebe, et al.
Human Genetics
|
March 31, 2006
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke
Martin Horan, Vicky Newsway, Yasmin, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 23) with videos related to
Sort By:
Page
of 3
Genomic Medicine
|
September 24, 2008
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene
Lyndon G Rosser, Shane McKee, David S Millar, et al.
Human Genomics
|
September 18, 2010
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
David S Millar, Carolyn Tysoe, Lazarus P Lazarou, et al.
Human Mutation
|
March 26, 2003
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region
Martin Horan, David S Millar, Jürgen Hedderich, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 4, 2003
Human growth hormone I gene expression is influenced in a complex haplotype-dependent fashion by polymorphic variation in both the proximal promoter and the locus control region
David N Cooper, Martin Horan, David S Millar, et al.
Plos One
|
December 11, 2013
A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti
Rachel E Towers, Leonardo Murgiano, David S Millar, et al.
Human Genetics
|
June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research setting
Peter D Stenson, Matthew Mort, Edward V Ball, et al.
Molecular and Cellular Endocrinology
|
October 28, 2008
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population
David S Millar, Mark D Lewis, Martin Horan, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2006
NTNG1 mutations are a rare cause of Rett syndrome
Hayley L Archer, Julie C Evans, David S Millar, et al.
Human Mutation
|
September 19, 2008
A gene conversion hotspot in the human growth hormone (GH1) gene promoter
Andreas Wolf, David S Millar, Amke Caliebe, et al.
Human Genetics
|
March 31, 2006
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke
Martin Horan, Vicky Newsway, Yasmin, et al.
Page
of 3