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Ophthalmic Genetics
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July 26, 2017
A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching
Chen Wang, Flavia Brancusi, Zaheer M Valivullah, et al.
The Biochemical Journal
|
May 13, 2006
Scanning peptide array analyses identify overlapping binding sites for the signalling scaffold proteins, beta-arrestin and RACK1, in cAMP-specific phosphodiesterase PDE4D5
Graeme B Bolger, George S Baillie, Xiang Li, et al.
Human Mutation
|
February 8, 2012
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
Cristina Dias, Murat Sincan, Praveen F Cherukuri, et al.
Journal of Inherited Metabolic Disease
|
May 13, 2020
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway
Mitali A Tambe, Bobby G Ng, Shino Shimada, et al.
FEBS Letters
|
September 29, 2009
A scanning peptide array approach uncovers association sites within the JNK/beta arrestin signalling complex
Xiang Li, Ruth MacLeod, Allan J Dunlop, et al.
Human Mutation
|
July 10, 2021
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus
Stacie K Loftus, Linnea Lundh, Dawn E Watkins-Chow, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2016
Phenotypic evolution of UNC80 loss of function
Elise Valkanas, Katherine Schaffer, Christopher Dunham, et al.
American Journal of Human Genetics
|
January 26, 2016
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Megan S Kane, Mariska Davids, Christopher Adams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2016
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience
Elizabeth M J Lee, Karen Xu, Emma Mosbrook, et al.
Orphanet Journal of Rare Diseases
|
February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
Bradley Power, Carlos R Ferreira, Dong Chen, et al.
Page
of 21
Search research articles
Search
Showing results (121-130 of 207) with videos related to
Sort By:
Page
of 21
Ophthalmic Genetics
|
July 26, 2017
A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching
Chen Wang, Flavia Brancusi, Zaheer M Valivullah, et al.
The Biochemical Journal
|
May 13, 2006
Scanning peptide array analyses identify overlapping binding sites for the signalling scaffold proteins, beta-arrestin and RACK1, in cAMP-specific phosphodiesterase PDE4D5
Graeme B Bolger, George S Baillie, Xiang Li, et al.
Human Mutation
|
February 8, 2012
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
Cristina Dias, Murat Sincan, Praveen F Cherukuri, et al.
Journal of Inherited Metabolic Disease
|
May 13, 2020
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway
Mitali A Tambe, Bobby G Ng, Shino Shimada, et al.
FEBS Letters
|
September 29, 2009
A scanning peptide array approach uncovers association sites within the JNK/beta arrestin signalling complex
Xiang Li, Ruth MacLeod, Allan J Dunlop, et al.
Human Mutation
|
July 10, 2021
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus
Stacie K Loftus, Linnea Lundh, Dawn E Watkins-Chow, et al.
American Journal of Medical Genetics. Part A
|
August 12, 2016
Phenotypic evolution of UNC80 loss of function
Elise Valkanas, Katherine Schaffer, Christopher Dunham, et al.
American Journal of Human Genetics
|
January 26, 2016
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Megan S Kane, Mariska Davids, Christopher Adams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2016
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience
Elizabeth M J Lee, Karen Xu, Emma Mosbrook, et al.
Orphanet Journal of Rare Diseases
|
February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
Bradley Power, Carlos R Ferreira, Dong Chen, et al.
Page
of 21