Isabelle Marey - Hop La Pitie Salpetriere, AP HP, Clin Genet Unit, Paris, France

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论文共 33 篇作者统计合作学者相似作者

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Growth Charts in DYRK1A Syndrome

Pierre-Louis Lanvin,Thomas Goronflot,Bertrand Isidor,Mathilde Nizon,Benjamin Durand,Salima El Chehadeh,David Genevieve,Valentin Ruault,Melanie Fradin,Laurent Pasquier,Julien Thevenon,Bruno Delobel,

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2024): 9-16

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Extending the Clinical Spectrum of X-linked Tonne-Kalscheuer Syndrome (TOKAS): New Insights from the Fetal Perspective

Silvestre Cuinat,Chloe Quelin, Claire Effray,Christele Dubourg,Gwenaelle Le Bouar,Anne-Sophie Cabaret-Dufour,Philippe Loget,Maia Proisy,Fanny Sauvestre, Melie Sarreau, Sophie Martin-Berenguer,Claire Beneteau,

JOURNAL OF MEDICAL GENETICS (2024)

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Early Detection and Treatment of Obstructive Sleep Apnoea in Infants with Down Syndrome: a Prospective, Non-Randomised, Controlled, Interventional Study

Brigitte Fauroux,Silvia Sacco,Vincent Couloigner,Alessandro Amaddeo, Emmanuelle Prioux, Jeanne Toulas,Romain Luscan, Manon Clert, Marie-Anne Caillaud,Livio De Sanctis,Sonia Khirani,Isabelle Marey,

LANCET REGIONAL HEALTH-EUROPE (2024)

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Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis

Silvia Sacco,Charles Bouis,Jennifer Gallard,Aude Pichot,Elodie Blondiaux,Isabelle Marey,Nathalie Dorison,Franck Sturtz,Cecile Cieuta-Walti,Aimé Ravel,Clotilde Mircher

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）

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1P36 Deletion Syndrome: Review and Mapping with Further Characterization of the Phenotype, a New Cohort of 86 Patients

Clémence Jacquin,Emilie Landais,Céline Poirsier,Alexandra Afenjar,Ahmad Akhavi,Nathalie Bednarek,Caroline Bénech,Adeline Bonnard, Damien Bosquet,Lydie Burglen,Patrick Callier,Sandra Chantot-Bastaraud,

American journal of medical genetics Part Ano. 2 (2022): 445-458

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Elp2 Mutations Perturb the Epitranscriptome and Lead to a Complex Neurodevelopmental Phenotype

Marija Kojic, Tomasz Gawda,Monika Gaik, Alexander Begg,Anna Salerno-Kochan,Nyoman D. Kurniawan,Alun Jones,Katarzyna Drożdżyk,Anna Kościelniak,Andrzej Chramiec-Głąbik,Soroor Hediyeh-Zadeh,Maria Kasherman,

Nature communications（2021）

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Thyroid Hormone and Folinic Acid in Young Children with Down Syndrome: the Phase 3 ACTHYF Trial

Clotilde Mircher, S acco,Charles Bouis,Jennifer Gallard,Aude Pichot, Le Galloudec E, Cieuta,Isabelle Marey,Oliver Greiner-Mahler,Nathalie Dorison, Ângelo Geraldo Gambarini, S tora,

Yearbook of pediatric endocrinology (2020)

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Thyroid Hormone and Folinic Acid in Young Children with Down Syndrome: the Phase 3 ACTHYF Trial

Clotilde Mircher,Silvia Sacco,Charles Bouis,Jennifer Gallard,Aude Pichot, Eric Le Galloudec, Cecile Cieuta,Isabelle Marey,Oliver Greiner-Mahler,Nathalie Dorison,Alicia Gambarini,Samantha Stora,

Genetics in medicine（2020）

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Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency

Ash Zawerton,Cyril Mignot,Ashley Sigafoos,Patrick R. Blackburn,Abdul Haseeb,Kirsty McWalter,Shoji Ichikawa,Caroline Nava,Boris Keren,Perrine Charles,Isabelle Marey,Anne-Claude Tabet,

Genetics in medicine（2020）

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Le Dépistage Anténatal Sur Puces ADN (ACPA) Lors Des Anomalies Mineures De L’échographie Fœtale Affecte Les Représentations Et L’état Émotionnel Maternel : Une Étude Exploratoire

Sylvie Viaux Savelon,Margaux Decherf,Nicolas Bodeau, Yves Ville,Isabelle Marey,David Cohen,Marc Dommergues

Devenirno. 2 (2020): 105-117

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