Valérie Benoit - From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium

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论文共 90 篇作者统计合作学者相似作者

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Genetic Insights into Fetal Kidney Development: Variants in HNF1A and PKHD1 Genes

Mayssa Abdelwahed,Valerie Benoit,Bayen Maalej,Pascale Hilbert, Laurence Michel Calemard,Hassen Kamoun,Leila Ammar-Keskes,Neila Belguith

GENE (2024)

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Unravelling a Familial Case of DOK7 Congenital Myasthenic Syndrome by Analyzing RNA in Patients' Cultured Cells

Florence Arts,Deniz Karadurmus, Olivier Monestier, Delphine De Moor, Mathilde Lheureux, Marie-Line Lizon, Mona Gandea,Valerie Benoit,Isabelle Maystadt

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 518-519

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Unraveling a case of Niemann-Pick disease using long read sequencing and adaptive sampling

Deniz Karadurmus,Sylvain Brohee,Sandrine Mary,Valerie Benoit,Anne Destree,Dominique Roland,Pascale Hilbert

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 422-422

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Clinical and genetic study of Waardenburg syndrome type 1 in Tunisian patients

Sana Skouri,Ahlem Achour, Malek Nouira,Faouzi Maazoul,Valerie Benoit,Besbes Ghazi,Ridha M'rad,Mediha Trabelsi

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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The Neonatal Presentation of BRAT1-Related Neonatal Rigidity and Multifocal Seizure Syndrome

L. Vega,D. Lederer,C. Hocq, B. Van Grambezen,V. Benoit, S. Flas,O. Danhaive,M. R. Cilio

Abstracts of the 48th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)Neuropediatrics (2022)

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Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to External Quality Assessment schemes for analyses focused on rare diseases

Josephine Lantoine,Anne Brysse,Vinciane Dideberg,Kathleen B. M. Claes,Sofie Symoens,Wim Coucke,Valerie Benoit,Sonia Rombout,Martine De Rycke,Sara Seneca,Lut Van Laer,Wim Wuyts,Anniek Corveleyn,Kris Van den Bogaert, Catherine Rydlewski, Francoise Wilkin,Marie Ravoet,Elodie Fastre,Arnaud Capron,Nathalie M. Vandevelde

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Biallelic Variants in ZNF142 Lead to a Syndromic Neurodevelopmental Disorder

Maria B. Christensen,Amanda M. Levy,Nazanin A. Mohammadi,Marcello Niceta,Rauan Kaiyrzhanov,Maria Lisa Dentici,Chadi Al Alam,Viola Alesi,Valerie Benoit,Kailash P. Bhatia,Tatjana Bierhals,Christian M. Bosselmann,Julien Buratti,Bert Callewaert,Berten Ceulemans,Perrine Charles,Matthias De Wachter,Mohammadreza Dehghani,Erika D'haenens,Martine Doco-Fenzy,Michaela Gessner, Cyrielle Gobert,Ulviyya Guliyeva,Tobias B. Haack,Trine B. Hammer,Tilman Heinrich,Maja Hempel,Theresia Herget,Ute Hoffmann,Judit Horvath,Henry Houlden,Boris Keren,Christina Kresge,Candy Kumps,Damien Lederer,Alban Lermine,Francesca Magrinelli,Reza Maroofian,Mohammad Yahya Vahidi Mehrjardi,Mahdiyeh Moudi,Amelie J. Mueller,Anna J. Oostra,Beth A. Pletcher,David Ros-Pardo, Shanika Samarasekera,Marco Tartaglia,Kristof Van Schil,Julie Vogt,Evangeline Wassmer,Juliane Winkelmann,Maha S. Zaki,Michael Zech,Holger Lerche,Francesca Clementina Radio,Paulino Gomez-Puertas,Rikke S. Moller,Zeynep Tuemer

Clinical genetics（2022）

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Case Report: Thirty-year Progression of an EMPF1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission Caused by a Novel De Novo Heterozygous DNM1L Variant

Charlene Lhuissier,Bart E. Wagner,Amy Vincent,Gaetan Garraux,Olivier Hougrand,Rudy Van Coster,Valerie Benoit,Deniz Karadurmus,Guy Lenaers,Naig Gueguen,Arnaud Chevrollier,Isabelle Maystadt

Frontiers in Neurology（2022）

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Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

Battisti Gladys,Wintjens René,Decottignies Anabelle,Merhi Ahmad,Fervaille Caroline, Sokal Etienne,Karadurmus Deniz,Benoit Valerie, Claessens Anick,Martinet Jean-Paul, Martiat Benoît, Kinzinger Philippe,Maystadt Isabelle

European journal of medical genetics（2021）

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