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American Journal of Medical Genetics. Part A
|
January 5, 2011
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
Jeff M Milunsky, Tom M Maher, Geping Zhao, et al.
American Journal of Human Genetics
|
September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Nature
|
July 3, 2023
Author Correction: Clonal haematopoiesis and risk of chronic liver disease
Waihay J Wong, Connor Emdin, Alexander G Bick, et al.
Nature
|
April 12, 2023
Clonal haematopoiesis and risk of chronic liver disease
Waihay J Wong, Connor Emdin, Alexander G Bick, et al.
Nature Communications
|
August 19, 2020
Deployable CRISPR-Cas13a diagnostic tools to detect and report Ebola and Lassa virus cases in real-time
Kayla G Barnes, Anna E Lachenauer, Adam Nitido, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Katherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
Human Mutation
|
March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Gemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Ebiomedicine
|
April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)
Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
Scientific Reports
|
April 14, 2018
Field validation of recombinant antigen immunoassays for diagnosis of Lassa fever
Matthew L Boisen, Jessica N Hartnett, Jeffrey G Shaffer, et al.
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Search research articles
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Showing results (961-970 of 998) with videos related to
Sort By:
Page
of 100
American Journal of Medical Genetics. Part A
|
January 5, 2011
Genotype-phenotype analysis of the branchio-oculo-facial syndrome
Jeff M Milunsky, Tom M Maher, Geping Zhao, et al.
American Journal of Human Genetics
|
September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
Nature
|
July 3, 2023
Author Correction: Clonal haematopoiesis and risk of chronic liver disease
Waihay J Wong, Connor Emdin, Alexander G Bick, et al.
Nature
|
April 12, 2023
Clonal haematopoiesis and risk of chronic liver disease
Waihay J Wong, Connor Emdin, Alexander G Bick, et al.
Nature Communications
|
August 19, 2020
Deployable CRISPR-Cas13a diagnostic tools to detect and report Ebola and Lassa virus cases in real-time
Kayla G Barnes, Anna E Lachenauer, Adam Nitido, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Katherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
Human Mutation
|
March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Gemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Ebiomedicine
|
April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
American Journal of Medical Genetics. Part A
|
May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)
Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
Scientific Reports
|
April 14, 2018
Field validation of recombinant antigen immunoassays for diagnosis of Lassa fever
Matthew L Boisen, Jessica N Hartnett, Jeffrey G Shaffer, et al.
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of 100