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Matthieu P Robert

Showing results (71-80 of 84) with videos related to

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Psychiatric Genetics|April 2, 2019
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndromeCaroline Demily, Charlyne Duwime, Clémence Lopez, et al.
European Journal of Ophthalmology|March 29, 2022
Retinal atrophy and markers of systemic and cerebrovascular severity in homozygous sickle cell diseaseGilles C Martin, Valentine Brousse, Philippe Connes, et al.
Journal of Medical Genetics|September 21, 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literaturePauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, et al.
Progress in Retinal and Eye Research|October 24, 2022
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approachesAlejandra Daruich, Melinda Duncan, Matthieu P Robert, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|September 19, 2019
Sostdc1 is expressed in all major compartments of developing and adult mammalian eyesMaud Valensi, Gabrielle Goldman, Dominique Marchant, et al.
Pediatric Rheumatology Online Journal|May 19, 2025
Bayesian trial of adalimumab versus secukinumab for children with juvenile idiopathic arthritis associated uveitis or chronic anterior uveitisAthimalaipet V Ramanan, Andrew D Dick, Thomas Jaki, et al.
Journal of Neuro-Oncology|March 3, 2022
The role of irinotecan-bevacizumab as rescue regimen in children with low-grade gliomas: a retrospective nationwide study in 72 patientsCharles de Marcellus, Arnault Tauziède-Espariat, Aurélie Cuinet, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
The Journal of Pediatrics|May 16, 2022
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in ChildrenMelodie Aubart, Charles-Joris Roux, Chloé Durrleman, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Pageof 9

Showing results (71-80 of 84) with videos related to

Sort By:
Pageof 9
Psychiatric Genetics|April 2, 2019
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndromeCaroline Demily, Charlyne Duwime, Clémence Lopez, et al.
European Journal of Ophthalmology|March 29, 2022
Retinal atrophy and markers of systemic and cerebrovascular severity in homozygous sickle cell diseaseGilles C Martin, Valentine Brousse, Philippe Connes, et al.
Journal of Medical Genetics|September 21, 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literaturePauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, et al.
Progress in Retinal and Eye Research|October 24, 2022
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approachesAlejandra Daruich, Melinda Duncan, Matthieu P Robert, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|September 19, 2019
Sostdc1 is expressed in all major compartments of developing and adult mammalian eyesMaud Valensi, Gabrielle Goldman, Dominique Marchant, et al.
Pediatric Rheumatology Online Journal|May 19, 2025
Bayesian trial of adalimumab versus secukinumab for children with juvenile idiopathic arthritis associated uveitis or chronic anterior uveitisAthimalaipet V Ramanan, Andrew D Dick, Thomas Jaki, et al.
Journal of Neuro-Oncology|March 3, 2022
The role of irinotecan-bevacizumab as rescue regimen in children with low-grade gliomas: a retrospective nationwide study in 72 patientsCharles de Marcellus, Arnault Tauziède-Espariat, Aurélie Cuinet, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
The Journal of Pediatrics|May 16, 2022
Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in ChildrenMelodie Aubart, Charles-Joris Roux, Chloé Durrleman, et al.
European Journal of Human Genetics : EJHG|November 3, 2016
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short statureSalima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, et al.
Pageof 9