Christel Thauvin - Unité de Génétique Médicale, Hôpital

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Papers共 38 篇Author StatisticsCo-AuthorSimilar Experts

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Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders

Paloma Parra-Díaz,Arnaud Monteil, Daniel Calame, Nawale Hadouiri, Luca Soliani, Egidio Spinelli, Elena Jabbour Caron, Klaus Dieterich,Amy Kritzer, Kacie Riley, Jose M Serratosa Fernández, Jeremy A Tanner, Hélène Tevissen,Christel Thauvin, Rafael Vera-Medialdea, Stephan M Waltz, Álvaro Beltrán-Corbellini,Irene García Morales, Irene Sánchez-Miranda Román,Rafael Toledano, Adrián Valls-Carbó,Antonio Gil-Nagel

Neurologyno. 7 (2025): e213429-e213429

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OP10.09: Prenatal Exome Sequencing: a Powerful Tool to Improve Description of Prenatal Features Related to Genetic Disorders

N. Bourgon,F. Tran Mau Them,A. Bruel, H. Safraou,A. Denomme‐Pichon, T. Rousseau,A. Vitobello,C. Philippe,C. Binquet,Y. Duffour,L. Faivre,C. Thauvin

Ultrasound in Obstetrics &amp Gynecologyno. S1 (2024): 86-86

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EP06.12: Prospective Reanalysis of Unsolved Prenatal Exome Sequencing: Diagnostic Yield and Contribution of Postnatal/post‐mortem Findings

N. Bourgon,F. Tran Mau Them, H. Safraou,A. Bruel,A. Denomme‐Pichon,A. Vitobello,C. Binquet,Y. Duffour,L. Faivre,C. Thauvin

Ultrasound in Obstetrics &amp Gynecologyno. S1 (2024): 150-151

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The Clinical and Genetic Spectrum of TRIO-gene Related Neurodevelopmental Disorder

T. B. Hammer,A. Aledo-Serrano,E. Argilli, C. M. Bonardi,C. F. Boerkoel,T. Bierhals,O. Boute, M. Landbo Borresen,N. Chrestian, M. Dasouki, M. David, T. Dudding-Byth,A. Dieux,C. Fagerberg, C. During Fenger,L. Faivre,A. Gil-Nagel,H. Goel, L. Kjaersgaard Hansen,T. Herget, A. E. Jonch,M. Kibaek, M. Leisieur,S. Mahida, J. Maraval,M. Morleo,V. Nigro,R. Oegema,F. Petit,C. Philippe, A. Cotinaud Ricou,M. Rio,L. Sadleir, H. Safraou, S. Sartori,A-S Schoonjans,A. Selicorni, J. Hee Seo,E. Sherr,T. Smol, S. Srivastava, K. Sorensen,C. Thauvin,F. Tran Mau-Them,A. Vitobello,S. Weckhuysen,R. Steensbjerre Moller

EPILEPSIA (2023): 371-372

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Identification of the First Homozygous Intragenic Deletion in the YY1AP1 Gene in a Consanguineous Family: New Insights into the Phenotypic Variability Associated with Grange Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

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Deux Cousins Germains Avec Un Même Phénotype D’obésité Et D’insuffisance Corticotrope, Un Seul Est Déficient POMC, Cherchez L’erreur

L. Le Collen,B. Delemer,C. Poitou,M. Vaxillaire,J.M. Petit,C. Thauvin,A. Saveanu,K. Clément,P. Froguel,A. Bonnefond

Annales d'Endocrinologie（2023）

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OC18.04: Clinical and Molecular Data in Case of Prenatal Localised Overgrowth Disorders: Major Implication of Variants in the PI3K‐AKT‐mTOR Signalling Pathway

N. Bourgon,V. Carmignac,A. Sorlin,Y. Duffour,C. Philippe,C. Thauvin,L. Guibaud,L. Faivre,P. Vabres,P. Kuentz

Ultrasound in Obstetrics and Gynecologyno. S1 (2021): 52-53

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OC18.02: Exome Sequencing During Pregnancy for Fetuses with Unsolved Multiple Congenital Abnormalities: a Powerful Tool to Improve Prenatal Diagnosis

N. Bourgon,M. Lefebvre,A. Bruel,F. Tran Mau Them,A. Garde,S. Moutton,A. Sorlin,J. Delanne,A. Vitobello,C. Thauvin

Ultrasound in Obstetrics and Gynecologyno. S1 (2021): 52-52

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Cltc Mutations Are Also Associated With Familial Forms Of Intellectual Disability

C. Engel,A. Garde, B. Chalot,S. Moutton,C. Philippe,F. Tran Mau-Them,N. Philip,F. Riccardi,A. Verloes,M. Nizon,B. Cogne,S. Kury,C. Thauvin,P. Callier,L. Faivre,A. Bruel,A. Sorlin

EUROPEAN JOURNAL OF HUMAN GENETICS（2020）

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