Search research articles
Contact Us
Filters
Showing results (41-50 of 49) with videos related to
Page
of 5
Sort By:
You have reached the last page of results.
This site can display upto 49 results.
Journal of Medical Genetics
|
February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
Simon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Blood
|
August 3, 2013
Genetic loss of SH2B3 in acute lymphoblastic leukemia
Arianne Perez-Garcia, Alberto Ambesi-Impiombato, Michael Hadler, et al.
Journal of Medical Genetics
|
June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
Nadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
Human Molecular Genetics
|
June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
American Journal of Obstetrics and Gynecology
|
December 18, 2025
Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validation
Pavan Gill, Xin Tao, Yiping Zhan, et al.
American Journal of Human Genetics
|
September 30, 2014
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, et al.
Plos Genetics
|
May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Manuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics
|
May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Manuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Nature Genetics
|
August 29, 2022
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility
Aleksejs Sazonovs, Christine R Stevens, Guhan R Venkataraman, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 49) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 49 results.
Journal of Medical Genetics
|
February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
Simon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Blood
|
August 3, 2013
Genetic loss of SH2B3 in acute lymphoblastic leukemia
Arianne Perez-Garcia, Alberto Ambesi-Impiombato, Michael Hadler, et al.
Journal of Medical Genetics
|
June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
Nadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
Human Molecular Genetics
|
June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Emanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
American Journal of Obstetrics and Gynecology
|
December 18, 2025
Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validation
Pavan Gill, Xin Tao, Yiping Zhan, et al.
American Journal of Human Genetics
|
September 30, 2014
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, et al.
Plos Genetics
|
May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Manuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics
|
May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Manuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Nature Genetics
|
August 29, 2022
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility
Aleksejs Sazonovs, Christine R Stevens, Guhan R Venkataraman, et al.
Page
of 5