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Laurent Guibaud

Showing results (71-80 of 109) with videos related to

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Genes|June 26, 2025
<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle AtresiaSara 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 hypoplasiaDelphine 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 syndromeZvi 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 variantsAlexandre 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-seriesLéo 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 casesJordan 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 protocolMaxime 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 literatureMarta 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 inhibitionGabriel 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 MutationAntoine Fraissenon, Charles Bayard, Gabriel Morin, et al.
Pageof 11

Showing results (71-80 of 109) with videos related to

Sort By:
Pageof 11
Genes|June 26, 2025
<i>MPDZ</i> Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle AtresiaSara 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 hypoplasiaDelphine 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 syndromeZvi 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 variantsAlexandre 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-seriesLéo 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 casesJordan 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 protocolMaxime 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 literatureMarta 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 inhibitionGabriel 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 MutationAntoine Fraissenon, Charles Bayard, Gabriel Morin, et al.
Pageof 11