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Human Mutation
|
January 1, 1996
Novel mutations and polymorphisms in the Fanconi anemia group C gene
R A Gibson, N V Morgan, L H Goldstein, et al.
Haematologica
|
October 7, 2017
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
José M Bastida, María L Lozano, Rocío Benito, et al.
Nature Genetics
|
March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, et al.
Human Molecular Genetics
|
March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression
Joel Smith, Martin L Read, Jon Hoffman, et al.
Cell
|
December 20, 2014
Dual proteolytic pathways govern glycolysis and immune competence
Wei Lu, Yu Zhang, David O McDonald, et al.
Haematologica
|
August 2, 2016
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
Ben Johnson, Gillian C Lowe, Jane Futterer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 11, 2019
The first day of the Cenozoic
Sean P S Gulick, Timothy J Bralower, Jens Ormö, et al.
Cardiovascular Research
|
August 12, 2024
PITX2 deficiency leads to atrial mitochondrial dysfunction
Jasmeet S Reyat, Laura C Sommerfeld, Molly O'Reilly, et al.
Nature Genetics
|
February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Irene A Aligianis, Colin A Johnson, Paul Gissen, et al.
Nature Genetics
|
January 18, 2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
Ursula M Smith, Mark Consugar, Louise J Tee, et al.
Page
of 28
Search research articles
Search
Showing results (261-270 of 278) with videos related to
Sort By:
Page
of 28
Human Mutation
|
January 1, 1996
Novel mutations and polymorphisms in the Fanconi anemia group C gene
R A Gibson, N V Morgan, L H Goldstein, et al.
Haematologica
|
October 7, 2017
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
José M Bastida, María L Lozano, Rocío Benito, et al.
Nature Genetics
|
March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, et al.
Human Molecular Genetics
|
March 6, 2016
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression
Joel Smith, Martin L Read, Jon Hoffman, et al.
Cell
|
December 20, 2014
Dual proteolytic pathways govern glycolysis and immune competence
Wei Lu, Yu Zhang, David O McDonald, et al.
Haematologica
|
August 2, 2016
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
Ben Johnson, Gillian C Lowe, Jane Futterer, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
September 11, 2019
The first day of the Cenozoic
Sean P S Gulick, Timothy J Bralower, Jens Ormö, et al.
Cardiovascular Research
|
August 12, 2024
PITX2 deficiency leads to atrial mitochondrial dysfunction
Jasmeet S Reyat, Laura C Sommerfeld, Molly O'Reilly, et al.
Nature Genetics
|
February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Irene A Aligianis, Colin A Johnson, Paul Gissen, et al.
Nature Genetics
|
January 18, 2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
Ursula M Smith, Mark Consugar, Louise J Tee, et al.
Page
of 28