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Emerging Infectious Diseases
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April 21, 2020
Crimean-Congo Hemorrhagic Fever Virus Antibodies among Livestock on Corsica, France, 2014-2016
Sébastien Grech-Angelini, Renaud Lancelot, Olivier Ferraris, et al.
Pediatric Cardiology
|
October 30, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort
Elise Daire, Clément Sauvestre, Antoine Moktadir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome
Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.
American Journal of Medical Genetics. Part A
|
July 5, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
Felix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, et al.
International Journal of Molecular Sciences
|
August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo, Cécile Courdier, Elina Mercier, et al.
Clinical Genetics
|
July 2, 2021
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
Elizabeth E Palmer, Chloe Whitton, Mais O Hashem, et al.
Annals of Neurology
|
January 3, 2025
Phenotype Spectrum of TRPM3-Associated Disorders
Laura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Annals of Neurology
|
April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
February 9, 2024
Detection of Crimean-Congo haemorrhagic fever virus in <i>Hyalomma marginatum</i> ticks, southern France, May 2022 and April 2023
Célia Bernard, Charlotte Joly Kukla, Ignace Rakotoarivony, et al.
Clinical Genetics
|
June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
Camille Bergès, Clément Sauvestre, Sophie Naudion, et al.
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of 9
Search research articles
Search
Showing results (61-70 of 84) with videos related to
Sort By:
Page
of 9
Emerging Infectious Diseases
|
April 21, 2020
Crimean-Congo Hemorrhagic Fever Virus Antibodies among Livestock on Corsica, France, 2014-2016
Sébastien Grech-Angelini, Renaud Lancelot, Olivier Ferraris, et al.
Pediatric Cardiology
|
October 30, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort
Elise Daire, Clément Sauvestre, Antoine Moktadir, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 23, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome
Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, et al.
American Journal of Medical Genetics. Part A
|
July 5, 2022
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
Felix Marbach, Beata S Lipska-Ziętkiewicz, Agata Knurowska, et al.
International Journal of Molecular Sciences
|
August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo, Cécile Courdier, Elina Mercier, et al.
Clinical Genetics
|
July 2, 2021
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
Elizabeth E Palmer, Chloe Whitton, Mais O Hashem, et al.
Annals of Neurology
|
January 3, 2025
Phenotype Spectrum of TRPM3-Associated Disorders
Laura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Annals of Neurology
|
April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Maria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
February 9, 2024
Detection of Crimean-Congo haemorrhagic fever virus in <i>Hyalomma marginatum</i> ticks, southern France, May 2022 and April 2023
Célia Bernard, Charlotte Joly Kukla, Ignace Rakotoarivony, et al.
Clinical Genetics
|
June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients
Camille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Page
of 9