Francesca Peluso - Servizio Sanitario Regionale Emilia Romagna

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论文共 38 篇作者统计合作学者相似作者

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Clinico-biological Refinement of BCL11B-related Disorder and Identification of an Episignature: A Series of 20 Unreported Individuals

Quentin Sabbagh,Sadegheh Haghshenas,Juliette Piard,Chloe Trouve,Jeanne Amiel,Tania Attie-Bitach,Tugce Balci,Mouna Barat-Houari,Alyce Belonis,Odile Boute,Diana S. Brightman,Ange-Line Bruel,Stefano Giuseppe Caraffi,Nicolas Chatron,Corinne Collet,William Dufour,Patrick Edery,Chin-To Fong,Carlo Fusco,Vincent Gatinois,Evan Gouy,Anne-Marie Guerrot,Solveig Heide, Aakash Joshi,Natalya Karp,Boris Keren,Marion Lesieur-Sebellin,Jonathan Levy,Michael A. Levy,Claire Lozano,Stanislas Lyonnet,Henri Margot,Pauline Marzin,Haley Mcconkey,Vincent Michaud,Gael Nicolas, Mevyn Nizard, Alix Paulet,Francesca Peluso,Vincent Pernin,Laurence Perrin,Christophe Philippe,Chitra Prasad,Madhavi Prasad,Raissa Relator,Marlene Rio,Sophie Rondeau,Valentin Ruault,Nathalie Ruiz-Pallares,Elodie Sanchez,Debbie Shears,Victoria Mok Siu,Arthur Sorlin,Matthew Tedder,Mylene Tharreau,Frederic Tran Mau-Them,Liselot van der Laan,Julien Van Gils,Alain Verloes,Sandra Whalen,Marjolaine Willems,Kevin Yauy,Roberta Zuntini,Jennifer Kerkhof,Bekim Sadikovic,David Genevieve

GENETICS IN MEDICINEno. 1 (2024)

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Two Novel Compound Heterozygous HOXB1 Variants in Congenital Facial Palsy: A Case Report and a Brief Review of the Literature

Chiara Brugnoli,Susanna Rizzi,Carlo Alberto Cesaroni, Carlotta Spagnoli, Giovanna Pregnolato,Stefano Giuseppe Caraffi,Manuela Napoli,Rosario Pascarella,Roberta Zuntini,Francesca Peluso, Livia Garavelli, Eleonora Chiarotto, Alberta Leon,Daniele Frattini, Carlo Fusco

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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An Uncommon Neuroradiological Finding of Hippocampal Malrotation in Childhood Onset Schizophrenia and 22q11.2 Deletion Syndrome: a Case Report and a Brief Review of the Literature

Maria Giardino,Francesca Peluso, Omar Daolio,Melissa Bellini,Enrico Ambrosini, Matteo Zito,Antonella Squarcia

European Child & Adolescent Psychiatrypp.1-6, (2024)

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Identification of Bi-Allelic LFNG Variants in Three Patients and Further Clinical and Molecular Refinement of Spondylocostal Dysostosis 3

Mauro Lecca,Maria Francesca Bedeschi,Claudia Izzi,Chiara Dordoni,Berardo Rinaldi,Francesca Peluso,Stefano Giuseppe Caraffi,Federico Prefumo,Marino Signorelli, Matteo Zanzucchi,Silvia Bione,Claudia Ghigna,Silvia Sassi,Antonio Novelli,Enza Maria Valente,Andrea Superti-Furga,Livia Garavelli,Edoardo Errichiello

Clinical geneticsno. 2 (2023): 230-237

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Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature

Margherita Baga,Ivan Ivanovski,Gianluca Contro,Stefano Giuseppe Caraffi,Carlotta Spagnoli,Carlo Alberto Cesaroni,Alberto Neri,Francesca Peluso,Marzia Pollazzon,Livia Garavelli,Carlo Fusco

MOLECULAR SYNDROMOLOGYno. 1 (2023): 1-8

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The Clinical and Molecular Spectrum of the KDM6B-related Neurodevelopmental Disorder

Dmitrijs Rots,Taryn E. Jakub,Crystal Keung, Vissers E. L. M. Lisenka,Siddharth Banka,Rolph Pfundt,Bert B. A. de Vries,Richard H. van Jaarsveld,Saskia M. J. Hopman,Ellen van Binsbergen,Irene Valenzuela,Maja Hempel,Tatjana Bierhals,Fanny Kortuem,Francois Lecoquierre,Alice Goldenberg,Jens Michael Hertz,Charlotte Brasch Andersen,Maria Kibaek,Eloise J. Prijoles,Roger E. Stevenson,David B. Everman,Wesley G. Patterson,Linyan Meng,Charul Gijavanekar,Karl De Dios,Shenela Lakhani,Tess Levy,Matias Wagner,Dagmar Wieczorek,Paul J. Benke,Maria Soledad Lopez Garcia,Renee Perrier,Sergio B. Sousa,Pedro M. Almeida,Maria Jose Simoes,Bertrand Isidor,Wallid Deb,Andrew A. Schmanski,Omar Abdul-Rahman,Christophe Philippe,Ange-Line Bruel,Laurence Faivre,Antonio Vitobello,Christel Thauvin,Jeroen J. Smits,Livia Garavelli,Stefano G. Caraffi,Francesca Peluso,Laura Davis-Keppen, Dylan Platt,Erin Royer,Lisette Leeuwen,Margje Sinnema,Alexander P. A. Stegmann,Constance T. R. M. Stumpel,George E. Tiller,Danielle G. M. Bosch, Stephanus T. Potgieter,Shelagh Joss,Miranda Splitt,Simon Holden,Matina Prapa,Nicola Foulds,Sofia Douzgou,Kaija Puura,Regina Waltes,Andreas G. Chiocchetti,Christine M. Freitag,F. Kyle Satterstrom,Silvia De Rubeis,Joseph Buxbaum,Bruce D. Gelb,Aleksic Branko,Itaru Kushima,Jennifer Howe,Stephen W. Scherer,Alessia Arado,Chiara Baldo,Olivier Patat,Demeer Benedicte,Diego Lopergolo,Filippo M. Santorelli,Tobias B. Haack, Andreas Dufke,Miriam Bertrand,Ruth J. Falb,Angelika Riess,Peter Krieg,Stephanie Spranger,Maria Francesca Bedeschi,Maria Iascone,Sarah Josephi-Taylor,Tony Roscioli,Michael F. Buckley,Jan Liebelt,Aditi I. Dagli,Emmelien Aten,Anna C. E. Hurst, Alesha Hicks,Mohnish Suri,Ermal Aliu,Sunil Naik,Richard Sidlow,Juliette Coursimault,Gael Nicolas,Hanna Kuepper,Florence Petit, Veyan Ibrahim,Deniz Top,Francesca Di Cara,Raymond J. Louie,Elliot Stolerman,Han G. Brunner, Lisenka E. L. M. Vissers,Jamie M. Kramer,Tjitske Kleefstra

American journal of human geneticsno. 6 (2023): 963-978

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A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature

Alessandra Gelmetti,Francesca Besagni,Livia Garavelli,Elisa Pisaneschi,Cosimo Misciali,Lara Valeri,Francesca Peluso,Marco Adriano Chessa,Miriam Leuzzi,Annalucia Virdi,Bianca Maria Piraccini,Iria Neri

Journal of rare diseases and orphan drugs (2023): 10-18

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Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

Emanuele Coccia,Lara Valeri,Roberta Zuntini,Stefano Giuseppe Caraffi,Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo,Nives Melli,Valentina Fiorini,Andrea Greco,Francesca Romana Lepri,Elisa Pisaneschi,Annabella Marozza,Diana Carli,Alessandro Mussa,Francesca Clementina Radio, Beatrice Conti,Maria Iascone,Giancarlo Gargano,Antonio Novelli,Marco Tartaglia,Orsetta Zuffardi,Maria Francesca Bedeschi,Livia Garavelli

GENESno. 3 (2023)

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Deep Phenotyping of the Neuroimaging and Skeletal Features in KBG Syndrome: a Study of 53 Patients and Review of the Literature

Francesca Peluso,Stefano G. Caraffi,Gianluca Contro,Lara Valeri,Manuela Napoli, Giorgia Carboni,Alka Seth,Roberta Zuntini,Emanuele Coccia,Guja Astrea,Anne-Marie Bisgaard,Ivan Ivanovski,Silvia Maitz,Elise Brischoux-Boucher,Melissa T. Carter,Maria Lisa Dentici,Koenraad Devriendt,Melissa Bellini,Maria Cristina Digilio,Asif Doja,David A. Dyment,Stense Farholt,Carlos R. Ferreira,Lynne A. Wolfe,William A. Gahl,Maria Gnazzo,Himanshu Goel,Sabine Weller Gronborg,Trine Hammer,Lorenzo Iughetti,Tjitske Kleefstra,David A. Koolen,Francesca Romana Lepri,Gabrielle Lemire,Pedro Louro,Gary McCullagh,Simona F. Madeo,Annarita Milone,Roberta Milone,Jens Erik Klint Nielsen,Antonio Novelli,Charlotte W. Ockeloen,Rosario Pascarella,Tommaso Pippucci,Ivana Ricca,Stephen P. Robertson,Sarah Sawyer,Marie Falkenberg Smeland,Sander Stegmann,Constanze T. Stumpel,Amy Goel,Juliet M. Taylor,Domenico Barbuti,Annarosa Soresina,Maria Francesca Bedeschi,Roberta Battini,Anna Cavalli,Carlo Fusco,Maria Iascone,Lionel Van Maldergem,Sunita Venkateswaran,Orsetta Zuffardi,Samantha Vergano,Livia Garavelli,Allan Bayat

JOURNAL OF MEDICAL GENETICS（2023）

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