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Martin Catala

Showing results (21-30 of 30) with videos related to

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American Journal of Medical Genetics. Part A|February 28, 2003
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathiesNicole Ravisé, Odile Dubourg, Sandrine Tardieu, et al.
Human Molecular Genetics|June 14, 2015
The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressorChristine Laclef, Isabelle Anselme, Laurianne Besse, et al.
AJNR. American Journal of Neuroradiology|October 11, 2024
Pituitary Gland Duplication Syndrome: An International Imaging AnalysisUlrike Löbel, Martin Catala, Felice D'Arco, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.
Nature Communications|April 5, 2025
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specificationAntonia Wiegering, Isabelle Anselme, Ludovica Brunetti, et al.
Human Molecular Genetics|March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactionsCécile Rouzier, David Moore, Cécile Delorme, et al.
Annals of Neurology|June 10, 2019
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging studyGiorgia Querin, Peter Bede, Mohamed Mounir El Mendili, et al.
AJNR. American Journal of Neuroradiology|February 15, 2024
International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal CordAnkit Balani, Jai Sidpra, Sniya Sudhakar, et al.
Neuroimage. Clinical|December 8, 2018
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging studyGiorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

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Pageof 3
You have reached the last page of results.This site can display upto 30 results.
American Journal of Medical Genetics. Part A|February 28, 2003
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathiesNicole Ravisé, Odile Dubourg, Sandrine Tardieu, et al.
Human Molecular Genetics|June 14, 2015
The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressorChristine Laclef, Isabelle Anselme, Laurianne Besse, et al.
AJNR. American Journal of Neuroradiology|October 11, 2024
Pituitary Gland Duplication Syndrome: An International Imaging AnalysisUlrike Löbel, Martin Catala, Felice D'Arco, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.
Nature Communications|April 5, 2025
A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specificationAntonia Wiegering, Isabelle Anselme, Ludovica Brunetti, et al.
Human Molecular Genetics|March 24, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactionsCécile Rouzier, David Moore, Cécile Delorme, et al.
Annals of Neurology|June 10, 2019
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging studyGiorgia Querin, Peter Bede, Mohamed Mounir El Mendili, et al.
AJNR. American Journal of Neuroradiology|February 15, 2024
International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal CordAnkit Balani, Jai Sidpra, Sniya Sudhakar, et al.
Neuroimage. Clinical|December 8, 2018
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging studyGiorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
Pageof 3