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Nature Genetics
|
November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Margaret E Harley, Olga Murina, Andrea Leitch, et al.
Nature Genetics
|
March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Louise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
Nature Chemical Biology
|
December 24, 2005
Monocarboxylate transporter MCT1 is a target for immunosuppression
Clare M Murray, Raymond Hutchinson, John R Bantick, et al.
American Journal of Human Genetics
|
August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndrome
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Nature Genetics
|
October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
American Journal of Human Genetics
|
July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Plos Biology
|
December 15, 2020
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
The Journal of Clinical Investigation
|
December 16, 2014
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
Claudia Günther, Barbara Kind, Martin A M Reijns, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 145) with videos related to
Sort By:
Page
of 15
Nature Genetics
|
November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
Margaret E Harley, Olga Murina, Andrea Leitch, et al.
Nature Genetics
|
March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Louise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.
Nature Chemical Biology
|
December 24, 2005
Monocarboxylate transporter MCT1 is a target for immunosuppression
Clare M Murray, Raymond Hutchinson, John R Bantick, et al.
American Journal of Human Genetics
|
August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndrome
Carlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
Nature Genetics
|
October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.
American Journal of Human Genetics
|
July 5, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, et al.
Plos Biology
|
December 15, 2020
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
The Journal of Clinical Investigation
|
December 16, 2014
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
Claudia Günther, Barbara Kind, Martin A M Reijns, et al.
Page
of 15