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Catherine Vincent

Showing results (101-110 of 188) with videos related to

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Magnetic Resonance Imaging|May 4, 2004
Magnetic resonance imaging contrast-enhanced relaxometry of breast tumors: an MRI multicenter investigation concerning 100 patientsPierre-Antoine Eliat, Véronique Dedieu, Catherine Bertino, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndromeMustafa Ghanim, Sylvie Rossignol, Bruno Delobel, et al.
Pigment Cell & Melanoma Research|July 21, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndromePerrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, et al.
Human Mutation|June 17, 2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Ilse Wieland, William Reardon, Sibylle Jakubiczka, et al.
Prenatal Diagnosis|February 12, 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhageThibault Coste, Catherine Vincent-Delorme, Morgane Stichelbout, et al.
European Journal of Human Genetics : EJHG|May 10, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literatureFiona Leduc, Perrine Brunelle, Fabienne Escande, et al.
Orphanet Journal of Rare Diseases|November 5, 2025
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center studyArthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Canadian Liver Journal|August 22, 2022
A real-world experience of SARS-CoV-2 infection in a tertiary referral centre of Montréal: Unexpected low prevalence and low mortalityIsaac Ruiz, Geneviève Huard, Claire Fournier, et al.
Hepatology Communications|September 14, 2020
Real-World Effectiveness of Obeticholic Acid in Patients with Primary Biliary CholangitisSurain B Roberts, Marwa Ismail, Gowthami Kanagalingam, et al.
Pageof 19

Showing results (101-110 of 188) with videos related to

Sort By:
Pageof 19
Magnetic Resonance Imaging|May 4, 2004
Magnetic resonance imaging contrast-enhanced relaxometry of breast tumors: an MRI multicenter investigation concerning 100 patientsPierre-Antoine Eliat, Véronique Dedieu, Catherine Bertino, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndromeMustafa Ghanim, Sylvie Rossignol, Bruno Delobel, et al.
Pigment Cell & Melanoma Research|July 21, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndromePerrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, et al.
Human Mutation|June 17, 2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Ilse Wieland, William Reardon, Sibylle Jakubiczka, et al.
Prenatal Diagnosis|February 12, 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhageThibault Coste, Catherine Vincent-Delorme, Morgane Stichelbout, et al.
European Journal of Human Genetics : EJHG|May 10, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literatureFiona Leduc, Perrine Brunelle, Fabienne Escande, et al.
Orphanet Journal of Rare Diseases|November 5, 2025
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center studyArthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Canadian Liver Journal|August 22, 2022
A real-world experience of SARS-CoV-2 infection in a tertiary referral centre of Montréal: Unexpected low prevalence and low mortalityIsaac Ruiz, Geneviève Huard, Claire Fournier, et al.
Hepatology Communications|September 14, 2020
Real-World Effectiveness of Obeticholic Acid in Patients with Primary Biliary CholangitisSurain B Roberts, Marwa Ismail, Gowthami Kanagalingam, et al.
Pageof 19