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American Journal of Medical Genetics. Part A
|
November 11, 2003
Costello syndrome and neurological abnormalities
Marie-Ange Delrue, Jean-François Chateil, Benoit Arveiler, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2017
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, et al.
Clinical Genetics
|
March 28, 2025
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder
Gaëlle Forest-St-Onge, Jean-François Soucy, Marie-Ange Delrue, et al.
Molecular Genetics and Metabolism Reports
|
March 29, 2024
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis
Tanguy Demaret, Jean-Sébastien Joyal, Aspasia Karalis, et al.
Pediatric Neurology
|
September 18, 2023
Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy
Gianluca D'Onofrio, Marie-Ange Delrue, Anne Lortie, et al.
Molecular Genetics and Metabolism
|
August 8, 2013
Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
Marie-Laure Vuillaume, Marie-Ange Delrue, Sophie Naudion, et al.
Pediatric Dermatology
|
November 29, 2013
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review
Fanny Morice-Picard, Khaled Ezzedine, Marie-Ange Delrue, et al.
Clinical Genetics
|
August 22, 2025
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, et al.
Human Mutation
|
September 5, 2006
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments
Marianne Stef, Delphine Simon, Ingrid Burgelin, et al.
Pediatric Cardiology
|
November 14, 2019
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly
Anne-Frédérique Minsart, Isabelle Boucoiran, Marie-Ange Delrue, et al.
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of 6
Search research articles
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Showing results (1-10 of 55) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
November 11, 2003
Costello syndrome and neurological abnormalities
Marie-Ange Delrue, Jean-François Chateil, Benoit Arveiler, et al.
American Journal of Medical Genetics. Part A
|
April 28, 2017
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, et al.
Clinical Genetics
|
March 28, 2025
Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder
Gaëlle Forest-St-Onge, Jean-François Soucy, Marie-Ange Delrue, et al.
Molecular Genetics and Metabolism Reports
|
March 29, 2024
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis
Tanguy Demaret, Jean-Sébastien Joyal, Aspasia Karalis, et al.
Pediatric Neurology
|
September 18, 2023
Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy
Gianluca D'Onofrio, Marie-Ange Delrue, Anne Lortie, et al.
Molecular Genetics and Metabolism
|
August 8, 2013
Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication
Marie-Laure Vuillaume, Marie-Ange Delrue, Sophie Naudion, et al.
Pediatric Dermatology
|
November 29, 2013
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review
Fanny Morice-Picard, Khaled Ezzedine, Marie-Ange Delrue, et al.
Clinical Genetics
|
August 22, 2025
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, et al.
Human Mutation
|
September 5, 2006
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments
Marianne Stef, Delphine Simon, Ingrid Burgelin, et al.
Pediatric Cardiology
|
November 14, 2019
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly
Anne-Frédérique Minsart, Isabelle Boucoiran, Marie-Ange Delrue, et al.
Page
of 6