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Showing results (221-230 of 232) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Pageof 24

Showing results (221-230 of 232) with videos related to

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Pageof 24
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.
Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.
European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Nature|February 5, 2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2R G Walters, S Jacquemont, A Valsesia, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Pageof 24