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Genetics in Medicine Open
|
June 30, 2025
Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada
Carol-Ann Fortin, Mélanie Côté-Richer, Karine Truchon, et al.
Science (New York, N.Y.)
|
May 1, 2010
Mutations in DCC cause congenital mirror movements
Myriam Srour, Jean-Baptiste Rivière, Jessica M T Pham, et al.
Science Advances
|
March 22, 2024
<i>SF3B1</i> mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia
Céline Moison, Deanne Gracias, Julie Schmitt, et al.
EMBO Reports
|
April 28, 2025
DDB1 engagement defines the selectivity of S656 analogs for cyclin K degradation over CDK inhibition
Céline Moison, Rodrigo Mendoza-Sanchez, Deanne Gracias, et al.
Plos Genetics
|
October 3, 2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
Ferran Casals, Alan Hodgkinson, Julie Hussin, et al.
Ebiomedicine
|
June 9, 2022
The role of common genetic variation in presumed monogenic epilepsies
Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Clinical Genetics
|
May 1, 2019
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
Daniel Benjamin Callaghan, Sanja Rogic, Powell Patrick Cheng Tan, et al.
Cancer Cell
|
July 10, 2019
Mubritinib Targets the Electron Transport Chain Complex I and Reveals the Landscape of OXPHOS Dependency in Acute Myeloid Leukemia
Irène Baccelli, Yves Gareau, Bernhard Lehnertz, et al.
The Lancet. Neurology
|
July 24, 2018
Rare coding variants in genes encoding GABA<sub>A</sub> receptors in genetic generalised epilepsies: an exome-based case-control study
Patrick May, Simon Girard, Merle Harrer, et al.
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Search research articles
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Showing results (21-30 of 29) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 29 results.
Genetics in Medicine Open
|
June 30, 2025
Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada
Carol-Ann Fortin, Mélanie Côté-Richer, Karine Truchon, et al.
Science (New York, N.Y.)
|
May 1, 2010
Mutations in DCC cause congenital mirror movements
Myriam Srour, Jean-Baptiste Rivière, Jessica M T Pham, et al.
Science Advances
|
March 22, 2024
<i>SF3B1</i> mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia
Céline Moison, Deanne Gracias, Julie Schmitt, et al.
EMBO Reports
|
April 28, 2025
DDB1 engagement defines the selectivity of S656 analogs for cyclin K degradation over CDK inhibition
Céline Moison, Rodrigo Mendoza-Sanchez, Deanne Gracias, et al.
Plos Genetics
|
October 3, 2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
Ferran Casals, Alan Hodgkinson, Julie Hussin, et al.
Ebiomedicine
|
June 9, 2022
The role of common genetic variation in presumed monogenic epilepsies
Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Clinical Genetics
|
May 1, 2019
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
Daniel Benjamin Callaghan, Sanja Rogic, Powell Patrick Cheng Tan, et al.
Cancer Cell
|
July 10, 2019
Mubritinib Targets the Electron Transport Chain Complex I and Reveals the Landscape of OXPHOS Dependency in Acute Myeloid Leukemia
Irène Baccelli, Yves Gareau, Bernhard Lehnertz, et al.
The Lancet. Neurology
|
July 24, 2018
Rare coding variants in genes encoding GABA<sub>A</sub> receptors in genetic generalised epilepsies: an exome-based case-control study
Patrick May, Simon Girard, Merle Harrer, et al.
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of 3