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Human Molecular Genetics
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June 19, 2013
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
Melody Caramins, James G Colebatch, Matthew N Bainbridge, et al.
Plos Genetics
|
August 23, 2013
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
Xin He, Stephan J Sanders, Li Liu, et al.
Life Science Alliance
|
July 24, 2021
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant
Marie-Claude Gingras, Aniko Sabo, Maria Cardenas, et al.
Molecular Biology and Evolution
|
February 6, 2014
Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum
Andre E Moura, Charlene Janse van Rensburg, Malgorzata Pilot, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
Genome Medicine
|
June 29, 2013
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, et al.
Journal of Bacteriology
|
February 5, 2008
The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse
Tim Durfee, Richard Nelson, Schuyler Baldwin, et al.
Genome Research
|
December 6, 2008
A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome
Oliver A Hampton, Petra Den Hollander, Christopher A Miller, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2015
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Enriching for Answers in Rare Diseases
Yilei Fu, Adam C English, Luis F Paulin, et al.
Page
of 117
Search research articles
Search
Showing results (701-710 of 1,165) with videos related to
Sort By:
Page
of 117
Human Molecular Genetics
|
June 19, 2013
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
Melody Caramins, James G Colebatch, Matthew N Bainbridge, et al.
Plos Genetics
|
August 23, 2013
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
Xin He, Stephan J Sanders, Li Liu, et al.
Life Science Alliance
|
July 24, 2021
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant
Marie-Claude Gingras, Aniko Sabo, Maria Cardenas, et al.
Molecular Biology and Evolution
|
February 6, 2014
Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum
Andre E Moura, Charlene Janse van Rensburg, Malgorzata Pilot, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
Genome Medicine
|
June 29, 2013
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, et al.
Journal of Bacteriology
|
February 5, 2008
The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse
Tim Durfee, Richard Nelson, Schuyler Baldwin, et al.
Genome Research
|
December 6, 2008
A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome
Oliver A Hampton, Petra Den Hollander, Christopher A Miller, et al.
American Journal of Medical Genetics. Part A
|
August 5, 2015
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Enriching for Answers in Rare Diseases
Yilei Fu, Adam C English, Luis F Paulin, et al.
Page
of 117