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Human Mutation
|
May 3, 2013
PhenoTips: patient phenotyping software for clinical and research use
Marta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome
D A Pillers, W K Seltzer, B R Powell, et al.
Human Molecular Genetics
|
December 26, 2001
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
R Weksberg, J Nishikawa, O Caluseriu, et al.
Journal of General Internal Medicine
|
March 11, 2014
Exploration of an automated approach for receiving patient feedback after outpatient acute care visits
Eta S Berner, Midge N Ray, Anantachai Panjamapirom, et al.
Clinical Genetics
|
August 8, 2008
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland
S J Moore, D J Buckley, A MacMillan, et al.
Annals of Clinical and Translational Neurology
|
January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophy
Hernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Human Molecular Genetics
|
October 11, 2018
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, et al.
Stem Cells (Dayton, Ohio)
|
August 16, 2012
Activin and BMP4 synergistically promote formation of definitive endoderm in human embryonic stem cells
Adrian K K Teo, Yusuf Ali, Kee Yew Wong, et al.
Stem Cell Reports
|
January 11, 2019
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation
Crystal Y Chia, Pedro Madrigal, Simon L I J Denil, et al.
American Journal of Medical Genetics. Part A
|
June 14, 2006
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies
Cheryl Shuman, Adam C Smith, Leslie Steele, et al.
Page
of 57
Search research articles
Search
Showing results (501-510 of 566) with videos related to
Sort By:
Page
of 57
Human Mutation
|
May 3, 2013
PhenoTips: patient phenotyping software for clinical and research use
Marta Girdea, Sergiu Dumitriu, Marc Fiume, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome
D A Pillers, W K Seltzer, B R Powell, et al.
Human Molecular Genetics
|
December 26, 2001
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
R Weksberg, J Nishikawa, O Caluseriu, et al.
Journal of General Internal Medicine
|
March 11, 2014
Exploration of an automated approach for receiving patient feedback after outpatient acute care visits
Eta S Berner, Midge N Ray, Anantachai Panjamapirom, et al.
Clinical Genetics
|
August 8, 2008
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland
S J Moore, D J Buckley, A MacMillan, et al.
Annals of Clinical and Translational Neurology
|
January 20, 2016
RNAseq analysis for the diagnosis of muscular dystrophy
Hernan Gonorazky, Minggao Liang, Beryl Cummings, et al.
Human Molecular Genetics
|
October 11, 2018
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, et al.
Stem Cells (Dayton, Ohio)
|
August 16, 2012
Activin and BMP4 synergistically promote formation of definitive endoderm in human embryonic stem cells
Adrian K K Teo, Yusuf Ali, Kee Yew Wong, et al.
Stem Cell Reports
|
January 11, 2019
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation
Crystal Y Chia, Pedro Madrigal, Simon L I J Denil, et al.
American Journal of Medical Genetics. Part A
|
June 14, 2006
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies
Cheryl Shuman, Adam C Smith, Leslie Steele, et al.
Page
of 57