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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
Frédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Journal of Medical Genetics
|
September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder
Jeanne Jury, Thomas Besnard, Wallid Deb, et al.
British Journal of Haematology
|
July 24, 2020
Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment
Mohamed-Aziz Barkaoui, Emma Queheille, Nathalie Aladjidi, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
Veterinary Journal (London, England : 1997)
|
March 15, 2024
Antimicrobial prophylaxis in companion animal surgery: A scoping review for European Network for Optimization of Antimicrobial Therapy (ENOVAT) guidelines
T M Sørensen, K Scahill, J Espinel Ruperez, et al.
European Journal of Human Genetics : EJHG
|
November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Human Mutation
|
June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Karine Poirier, David A Keays, Fiona Francis, et al.
Plos One
|
February 27, 2016
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients
Aurore Curie, Amandine Brun, Anne Cheylus, et al.
Circulation. Cardiovascular Interventions
|
July 18, 2020
Reduced Rivaroxaban Dose Versus Dual Antiplatelet Therapy After Left Atrial Appendage Closure: ADRIFT a Randomized Pilot Study
Guillaume Duthoit, Johanne Silvain, Eloi Marijon, et al.
Human Mutation
|
July 2, 2016
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, et al.
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Search research articles
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Showing results (771-780 of 885) with videos related to
Sort By:
Page
of 89
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
Frédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Journal of Medical Genetics
|
September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder
Jeanne Jury, Thomas Besnard, Wallid Deb, et al.
British Journal of Haematology
|
July 24, 2020
Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment
Mohamed-Aziz Barkaoui, Emma Queheille, Nathalie Aladjidi, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
Aurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
Veterinary Journal (London, England : 1997)
|
March 15, 2024
Antimicrobial prophylaxis in companion animal surgery: A scoping review for European Network for Optimization of Antimicrobial Therapy (ENOVAT) guidelines
T M Sørensen, K Scahill, J Espinel Ruperez, et al.
European Journal of Human Genetics : EJHG
|
November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Human Mutation
|
June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Karine Poirier, David A Keays, Fiona Francis, et al.
Plos One
|
February 27, 2016
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients
Aurore Curie, Amandine Brun, Anne Cheylus, et al.
Circulation. Cardiovascular Interventions
|
July 18, 2020
Reduced Rivaroxaban Dose Versus Dual Antiplatelet Therapy After Left Atrial Appendage Closure: ADRIFT a Randomized Pilot Study
Guillaume Duthoit, Johanne Silvain, Eloi Marijon, et al.
Human Mutation
|
July 2, 2016
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, et al.
Page
of 89