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Nature Genetics
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June 5, 2023
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model
Katherine A Waugh, Ross Minter, Jessica Baxter, et al.
Genome Biology
|
September 16, 2011
Mutation discovery in mice by whole exome sequencing
Heather Fairfield, Griffith J Gilbert, Mary Barter, et al.
European Journal of Cancer (Oxford, England : 1990)
|
July 18, 2025
Paediatric strategy forum for medicinal product development of cyclin-dependent kinase inhibitors in children and adolescents ACCELERATE in collaboration with the European Medicines Agency With participation of the Food and Drug Administration
Andrew Dj Pearson, Susan Chi, Theodore W Laetscht, et al.
Human Mutation
|
June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans
Timothy C Cox, Andrew C Lidral, Jason C McCoy, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients
T Roscioli, G Elakis, T C Cox, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
Alanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
American Journal of Human Genetics
|
May 29, 2018
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
Liza L Cox, Timothy C Cox, Lina M Moreno Uribe, et al.
The New England Journal of Medicine
|
February 22, 2018
Efficacy of Larotrectinib in TRK Fusion-Positive Cancers in Adults and Children
Alexander Drilon, Theodore W Laetsch, Shivaani Kummar, et al.
Nature Communications
|
April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Ke Mao, Christelle Borel, Muhammad Ansar, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
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Search research articles
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Showing results (1411-1420 of 1,430) with videos related to
Sort By:
Page
of 143
Nature Genetics
|
June 5, 2023
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model
Katherine A Waugh, Ross Minter, Jessica Baxter, et al.
Genome Biology
|
September 16, 2011
Mutation discovery in mice by whole exome sequencing
Heather Fairfield, Griffith J Gilbert, Mary Barter, et al.
European Journal of Cancer (Oxford, England : 1990)
|
July 18, 2025
Paediatric strategy forum for medicinal product development of cyclin-dependent kinase inhibitors in children and adolescents ACCELERATE in collaboration with the European Medicines Agency With participation of the Food and Drug Administration
Andrew Dj Pearson, Susan Chi, Theodore W Laetscht, et al.
Human Mutation
|
June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans
Timothy C Cox, Andrew C Lidral, Jason C McCoy, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 16, 2013
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients
T Roscioli, G Elakis, T C Cox, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
Alanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
American Journal of Human Genetics
|
May 29, 2018
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
Liza L Cox, Timothy C Cox, Lina M Moreno Uribe, et al.
The New England Journal of Medicine
|
February 22, 2018
Efficacy of Larotrectinib in TRK Fusion-Positive Cancers in Adults and Children
Alexander Drilon, Theodore W Laetsch, Shivaani Kummar, et al.
Nature Communications
|
April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Ke Mao, Christelle Borel, Muhammad Ansar, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Page
of 143