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Genes
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June 26, 2025
<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia
Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, et al.
European Journal of Medical Genetics
|
February 19, 2013
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
Delphine Rocas, Eudeline Alix, Jessica Michel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 14, 2018
The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome
Zvi Leibovitz, Laurent Guibaud, Catherine Garel, et al.
Journal of Medical Genetics
|
February 22, 2023
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with <i>EPHB4</i> pathogenic variants
Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, et al.
Prenatal Diagnosis
|
January 5, 2022
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series
Léo Pomar, José Ochoa, Sara Cabet, et al.
European Journal of Radiology
|
July 9, 2023
Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases
Jordan Orly, Annouk Bisdorff, Antoine Fraissenon, et al.
BMJ Open
|
January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
Maxime Luu, Pierre Vabres, Aurélie Espitalier, et al.
Pediatric Dermatology
|
August 20, 2024
Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature
Marta Ivars, Ilona J Frieden, Lauren Provini, et al.
EMBO Molecular Medicine
|
May 19, 2025
Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition
Gabriel Morin, Alexandre P Garneau, Nabiha Bouzakher, et al.
The New England Journal of Medicine
|
July 17, 2024
Sotorasib for Vascular Malformations Associated with <i>KRAS</i> G12C Mutation
Antoine Fraissenon, Charles Bayard, Gabriel Morin, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 109) with videos related to
Sort By:
Page
of 11
Genes
|
June 26, 2025
<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia
Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, et al.
European Journal of Medical Genetics
|
February 19, 2013
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
Delphine Rocas, Eudeline Alix, Jessica Michel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 14, 2018
The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome
Zvi Leibovitz, Laurent Guibaud, Catherine Garel, et al.
Journal of Medical Genetics
|
February 22, 2023
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with <i>EPHB4</i> pathogenic variants
Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, et al.
Prenatal Diagnosis
|
January 5, 2022
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series
Léo Pomar, José Ochoa, Sara Cabet, et al.
European Journal of Radiology
|
July 9, 2023
Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases
Jordan Orly, Annouk Bisdorff, Antoine Fraissenon, et al.
BMJ Open
|
January 14, 2025
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
Maxime Luu, Pierre Vabres, Aurélie Espitalier, et al.
Pediatric Dermatology
|
August 20, 2024
Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature
Marta Ivars, Ilona J Frieden, Lauren Provini, et al.
EMBO Molecular Medicine
|
May 19, 2025
Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition
Gabriel Morin, Alexandre P Garneau, Nabiha Bouzakher, et al.
The New England Journal of Medicine
|
July 17, 2024
Sotorasib for Vascular Malformations Associated with <i>KRAS</i> G12C Mutation
Antoine Fraissenon, Charles Bayard, Gabriel Morin, et al.
Page
of 11