Emmanuelle Ranza

Stylianos E Antonarakis 16 collaborations

Muhammad Ansar 7 collaborations

Justyna Iwaszkiewicz 7 collaborations

Federico A Santoni 7 collaborations

Xavier Blanc 7 collaborations

Muhammad T Sarwar 6 collaborations

Jawad Ahmed 6 collaborations

Vincent Zoete 5 collaborations

Periklis Makrythanasis 5 collaborations

Sohail A Paracha 5 collaborations

None None 5 collaborations

Jill A Rosenfeld 4 collaborations

Matias Wagner 4 collaborations

Emilie Falconnet 3 collaborations

Sayyed Fahim Shah 3 collaborations

Azhar Ali Qaisar 3 collaborations

Geraldine Blanchard-Rohner 3 collaborations

Sylvie Odent 3 collaborations

Kirsty McWalter 3 collaborations

Boris Keren 3 collaborations

Sohail Aziz Paracha 2 collaborations

Patrizia Mammi 2 collaborations

Elena Ranza 2 collaborations

Anais Rampello 2 collaborations

Francesca Rodà 2 collaborations

Rodolfo Brianti 2 collaborations

Francisca Millan 2 collaborations

Rebecca C Spillmann 2 collaborations

Lindsay C Burrage 2 collaborations

Kirsten A Donald 2 collaborations

Lisa Emrick 2 collaborations

Emily O'Heir 2 collaborations

Konrad Platzer 2 collaborations

Isabelle Thiffault 2 collaborations

Marie Vincent 2 collaborations

Sébastien Küry 2 collaborations

Anne-Sophie Denommé-Pichon 2 collaborations

Erin Torti 2 collaborations

Ingrid M Wentzensen 2 collaborations

Marlène Rio 2 collaborations

Arjan Bouman 2 collaborations

Bertrand Isidor 2 collaborations

Anne Guimier 2 collaborations

Valérie Cormier-Daire 2 collaborations

Jeanne Amiel 2 collaborations

Gaetan Lesca 2 collaborations

Christian M Korff 2 collaborations

Michel Guipponi 2 collaborations

Eric W Klee 2 collaborations

David A Koolen 2 collaborations

Christian Korff 2 collaborations

Frederic Tran Mau-Them 2 collaborations

Hui B Chew 2 collaborations

David A Dyment 2 collaborations

Laurence Faivre 2 collaborations

Toshiyuki Itai 2 collaborations

Mitsuhiro Kato 2 collaborations

Urania Kotzaeridou 2 collaborations

Naomichi Matsumoto 2 collaborations

Satoko Miyatake 2 collaborations

Takeshi Mizuguchi 2 collaborations

Rolph Pfundt 2 collaborations

Tjitske Kleefstra 2 collaborations

Marc Abramowicz 2 collaborations

Pascal Senn 2 collaborations

Ariane Paoloni-Giacobino 2 collaborations

Dustin Baldridge 2 collaborations

Peter Jandus 2 collaborations

Alice Goldenberg 2 collaborations

Amelie Piton 2 collaborations

Marwan Shinawi 2 collaborations

Marije Meuwissen 2 collaborations

Benedicte Gerard 2 collaborations

Alessandro Serretti 1 collaboration

Jamshed Khan 1 collaboration

Andre Megarbane 1 collaboration

Roberto Colombo 1 collaboration

Madhur Shetty 1 collaboration

Maleeha Azam 1 collaboration

Ilse Kern 1 collaboration

Omer Farooq 1 collaboration

Constantin J Pournaras 1 collaboration

Ariane Malcles 1 collaboration

Mateusz Kecik 1 collaboration

Carlo Rivolta 1 collaboration

Waqar Muzaffar 1 collaboration

Aziz Qurban 1 collaboration

Liaqat Ali 1 collaboration

Yacine Aggoun 1 collaboration

Raheel Qamar 1 collaboration

L Keith Henry 1 collaboration

Federica Petraglia 1 collaboration

Marco Chiavilli 1 collaboration

Barbara Zaccaria 1 collaboration

Monica Nora 1 collaboration

Antonio Marcato 1 collaboration

Fabio Pessina 1 collaboration

Annamaria Salghetti 1 collaboration

Cosimo Costantino 1 collaboration

Antonio Frizziero 1 collaboration

Patrizia Fanzaghi 1 collaboration

Silvia Faverzani 1 collaboration

Ottavia Bergamini 1 collaboration

Stefania Allegri 1 collaboration

The Covid- Rehabilitation Group 1 collaboration

Frédéric Ebstein 1 collaboration

Hayriye Özkoç 1 collaboration

Matthias Gesemann 1 collaboration

Elke Krüger 1 collaboration

Ruxandra Bachmann-Gagescu 1 collaboration

Karolina Luczkowska 1 collaboration

Caroline Stekelenburg 1 collaboration

Frédérique Sloan-Béna 1 collaboration

Giacomo Gastaldi 1 collaboration

Valérie Schwitzgebel 1 collaboration

Pierre Maechler 1 collaboration

Farid Ullah 1 collaboration

Darius J Adams 1 collaboration

Abbe Lai 1 collaboration

Lynn Pais 1 collaboration

Zehra Agha 1 collaboration

Nicholas Katsanis 1 collaboration

Christopher Walsh 1 collaboration

Erica E Davis 1 collaboration

Frederic Baleydier 1 collaboration

Michela Schäppi 1 collaboration

Anne-Laure Rougemont 1 collaboration

Laura Merlini 1 collaboration

Marc Ansari 1 collaboration

Lance H Rodan 1 collaboration

Harley T Kurata 1 collaboration

Shawn M Lamothe 1 collaboration

Jasmine Maghera 1 collaboration

Rami Abou Jamra 1 collaboration

Anna Alkelai 1 collaboration

Isis Atallah 1 collaboration

Omer Bar-Yosef 1 collaboration

Frédéric Bilan 1 collaboration

Kathrine Bjorgo 1 collaboration

Patrick Van Bogaert 1 collaboration

Yoav Bolkier 1 collaboration

Björn U Christ 1 collaboration

Jorge L Granadillo 1 collaboration

Patricia Dickson 1 collaboration

Christèle Dubourg 1 collaboration

Aviva Eliyahu 1 collaboration

Kendra Engleman 1 collaboration

Michaela Veronika Gonfiantini 1 collaboration

Jean-Marc Good 1 collaboration

Judith Kalser 1 collaboration

Chiara Kloeckner 1 collaboration

Guus Lachmeijer 1 collaboration

Marina Macchiaiolo 1 collaboration

Francesco Nicita 1 collaboration

Xilma Ortiz-Gonzalez 1 collaboration

Marta Pacio-Miguez 1 collaboration

María Palomares-Bralo 1 collaboration

Loren Pena 1 collaboration

Mathieu Quinodoz 1 collaboration

Eliane Roulet-Perez 1 collaboration

Avni Santani 1 collaboration

Fernando Santos-Simarro 1 collaboration

Ben Pode-Shakked 1 collaboration

Cara Skraban 1 collaboration

Rachel Slaugh 1 collaboration

Andrea Superti-Furga 1 collaboration

Richard H van Jaabrsveld 1 collaboration

Hong-Gang Wang 1 collaboration

Pia Zacher 1 collaboration

Eric Rush 1 collaboration

Geoffrey S Pitt 1 collaboration

Ping Yee Billie Au 1 collaboration

Vandana Shashi 1 collaboration

Melivoia Rapti 1 collaboration

Yassine Zouaghi 1 collaboration

Jenny Meylan 1 collaboration

Jinwei Zhang 1 collaboration

Thomas Besnard 1 collaboration

Alfonso Caro-Llopis 1 collaboration

Xue Zeng 1 collaboration

Stephanie M Robert 1 collaboration

Sunday S Josiah 1 collaboration

Emre Kiziltug 1 collaboration

Benjamin Cogné 1 collaboration

Adam J Kundishora 1 collaboration

Le T Hao 1 collaboration

Hong Li 1 collaboration

Roger E Stevenson 1 collaboration

Raymond J Louie 1 collaboration

Wallid Deb 1 collaboration

Virginie Vignard 1 collaboration

F Lucy Raymond 1 collaboration

Farrah Rajabi 1 collaboration

Detelina Grozeva 1 collaboration

Stephanie A Coury 1 collaboration

Elise Brischoux-Boucher 1 collaboration

Katrin Õunap 1 collaboration

Karit Reinson 1 collaboration

Pilvi Ilves 1 collaboration

Eileen E Barr 1 collaboration

Solveig Heide Guihard 1 collaboration

Perrine Charles 1 collaboration

Eleanor G Seaby 1 collaboration

Kristin G Monaghan 1 collaboration

Yolande van Bever 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Wendy K Chung 1 collaboration

Ashley Wilson 1 collaboration

Delphine Quinquis 1 collaboration

Flora Bréhéret 1 collaboration

Kyle Retterer 1 collaboration

Pierre Lindenbaum 1 collaboration

Emmanuel Scalais 1 collaboration

Lindsay Rhodes 1 collaboration

Katrien Stouffs 1 collaboration

Elaine M Pereira 1 collaboration

Sara M Berger 1 collaboration

Sarah S Milla 1 collaboration

Ankita B Jaykumar 1 collaboration

Melanie H Cobb 1 collaboration

Shreyas Panchagnula 1 collaboration

Phan Q Duy 1 collaboration

Sandra Mercier 1 collaboration

Brigitte Gilbert-Dussardier 1 collaboration

Xavier Le Guillou 1 collaboration

Séverine Audebert-Bellanger 1 collaboration

Sébastien Schmitt 1 collaboration

Pierre Boisseau 1 collaboration

Dominique Bonneau 1 collaboration

Annick Toutain 1 collaboration

Estelle Colin 1 collaboration

Laurent Pasquier 1 collaboration

Richard Redon 1 collaboration

Michael J Friez 1 collaboration

Helena Pérez-Peña 1 collaboration

Syed Raza Akhtar Rizvi 1 collaboration

Shozeb Haider 1 collaboration

Charles E Schwartz 1 collaboration

Francisco Martínez 1 collaboration

Stéphane Bézieau 1 collaboration

Kristopher T Kahle 1 collaboration

Morgane Le Gouez 1 collaboration

Naziha Khen Dunlop 1 collaboration

Sylvie Beaudoin 1 collaboration

Valérie Malan 1 collaboration

Caroline Michot 1 collaboration

Geneviève Baujat 1 collaboration

Véronique Abadie 1 collaboration

Sabine Sarnacki 1 collaboration

Christophe Delacourt 1 collaboration

Stanislas Lyonnet 1 collaboration

Tania Attié-Bitach 1 collaboration

Véronique Pingault 1 collaboration

Véronique Rousseau 1 collaboration

Vincent Zimmern 1 collaboration

Florence Riant 1 collaboration

Emmanuel Roze 1 collaboration

Frank Lehmann-Horn 1 collaboration

Julitta de Bellescize 1 collaboration

Dorothée Ville 1 collaboration

Werner Z'Graggen 1 collaboration

Mathias Lidgren 1 collaboration

Maurice Beghetti 1 collaboration

Michael Absoud 1 collaboration

Sushma Goyal 1 collaboration

Deb K Pal 1 collaboration

Hannah Stamberger 1 collaboration

Trine B Hammer 1 collaboration

Elena Gardella 1 collaboration

Danique R M Vlaskamp 1 collaboration

Birgitte Bertelsen 1 collaboration

Simone Mandelstam 1 collaboration

Iris de Lange 1 collaboration

Jing Zhang 1 collaboration

Candace T Myers 1 collaboration

Christina Fenger 1 collaboration

Zaid Afawi 1 collaboration

Edith P Almanza Fuerte 1 collaboration

Danielle M Andrade 1 collaboration

Yunus Balcik 1 collaboration

Bruria Ben Zeev 1 collaboration

Mark F Bennett 1 collaboration

Samuel F Berkovic 1 collaboration

Eva Brilstra 1 collaboration

Øyvind L Busk 1 collaboration

Anita Cairns 1 collaboration

Roseline Caumes 1 collaboration

Nicolas Chatron 1 collaboration

Russell C Dale 1 collaboration

Christa de Geus 1 collaboration

Patrick Edery 1 collaboration

Deepak Gill 1 collaboration

Jacob Bie Granild-Jensen 1 collaboration

Lauren Gunderson 1 collaboration

Boudewijn Gunning 1 collaboration

Gali Heimer 1 collaboration

Johan R Helle 1 collaboration

Michael S Hildebrand 1 collaboration

Georgie Hollingsworth 1 collaboration

Volodymyr Kharytonov 1 collaboration

Bobby P C Koeleman 1 collaboration

Dorit Lev 1 collaboration

Richard J Leventer 1 collaboration

Mark T Mackay 1 collaboration

Erica L Macke 1 collaboration

Meriel McEntagart 1 collaboration

Shekeeb S Mohammad 1 collaboration

Pauline Monin 1 collaboration

Martino Montomoli 1 collaboration

Eva Morava 1 collaboration

Sebastien Moutton 1 collaboration

Alison M Muir 1 collaboration

Elena Parrini 1 collaboration

Peter Procopis 1 collaboration

Laura Reed 1 collaboration

Philipp S Reif 1 collaboration

Felix Rosenow 1 collaboration

Massimiliano Rossi 1 collaboration

Lynette G Sadleir 1 collaboration

Tara Sadoway 1 collaboration

Helenius J Schelhaas 1 collaboration

Amy L Schneider 1 collaboration

Krati Shah 1 collaboration

Ruth Shalev 1 collaboration

Sanjay M Sisodiya 1 collaboration

Thomas Smol 1 collaboration

Connie T R M Stumpel 1 collaboration

Kyra Stuurman 1 collaboration

Joseph D Symonds 1 collaboration

Nienke Verbeek 1 collaboration

Judith S Verhoeven 1 collaboration

Geoffrey Wallace 1 collaboration

Keren Yosovich 1 collaboration

Yuri A Zarate 1 collaboration

Ayelet Zerem 1 collaboration

Sameer M Zuberi 1 collaboration

Renzo Guerrini 1 collaboration

Heather C Mefford 1 collaboration

Chirag Patel 1 collaboration

Yue-Hua Zhang 1 collaboration

Rikke S Møller 1 collaboration

Ingrid E Scheffer 1 collaboration

Joery den Hoed 1 collaboration

Elke de Boer 1 collaboration

Norine Voisin 1 collaboration

Alexander J M Dingemans 1 collaboration

Nicolas Guex 1 collaboration

Laurens Wiel 1 collaboration

Christoffer Nellaker 1 collaboration

Shivarajan M Amudhavalli 1 collaboration

Siddharth Banka 1 collaboration

Frederique S Bena 1 collaboration

Bruria Ben-Zeev 1 collaboration

Vincent R Bonagura 1 collaboration

Ange-Line Bruel 1 collaboration

Theresa Brunet 1 collaboration

Han G Brunner 1 collaboration

Jacqueline Chrast 1 collaboration

Loreta Cimbalistienė 1 collaboration

Hilary Coon 1 collaboration

Emmanuèlle C Délot 1 collaboration

Florence Démurger 1 collaboration

Christel Depienne 1 collaboration

Dian Donnai 1 collaboration

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Christian Gilissen 1 collaboration

Leslie Granger 1 collaboration

Benjamin Haber 1 collaboration

Yasuo Hachiya 1 collaboration

Yasmin Hamzavi Abedi 1 collaboration

Jennifer Hanebeck 1 collaboration

Jayne Y Hehir-Kwa 1 collaboration

Brooke Horist 1 collaboration

Adam Jackson 1 collaboration

Rosalyn Jewell 1 collaboration

Kelly L Jones 1 collaboration

Shelagh Joss 1 collaboration

Hirofumi Kashii 1 collaboration

Anja A Kattentidt-Mouravieva 1 collaboration

Fernando Kok 1 collaboration

Vidya Krishnamurthy 1 collaboration

Vaidutis Kučinskas 1 collaboration

Alma Kuechler 1 collaboration

Alinoë Lavillaureix 1 collaboration

Pengfei Liu 1 collaboration

Linda Manwaring 1 collaboration

Benoît Mazel 1 collaboration

Vardiella Meiner 1 collaboration

Mohamad A Mikati 1 collaboration

Lip H Moey 1 collaboration

Shehla Mohammed 1 collaboration

Hagar Mor-Shaked 1 collaboration

Hayley Mountford 1 collaboration

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Laura Orec 1 collaboration

Matthew Osmond 1 collaboration

Timothy B Palculict 1 collaboration

Michael Parker 1 collaboration

Andrea K Petersen 1 collaboration

Eglė Preikšaitienė 1 collaboration

Kelly Radtke 1 collaboration

Teresa Santiago-Sim 1 collaboration

Caitlin Schwager 1 collaboration

Margje Sinnema 1 collaboration

Lot Snijders Blok 1 collaboration

Alexander P A Stegmann 1 collaboration

Linh Tran 1 collaboration

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Samantha A Schrier Vergano 1 collaboration

Eric Vilain 1 collaboration

Antonio Vitobello 1 collaboration

Androu Waheeb 1 collaboration

Marcia Willing 1 collaboration

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Usha Kini 1 collaboration

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Simon E Fisher 1 collaboration

Lisenka E L M Vissers 1 collaboration

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Nils Guinand 1 collaboration

Helene Cao-Van 1 collaboration

Maria Lucia Cediel 1 collaboration

Michal Stawarski 1 collaboration

Lenka Nosková 1 collaboration

Martin Magner 1 collaboration

Janina Gburek-Augustat 1 collaboration

John N Constantino 1 collaboration

Bernhard Bettler 1 collaboration

John J Reynolds 1 collaboration

Nissan Vida Baratang 1 collaboration

Jennifer B Phillips 1 collaboration

Jeremy Wegner 1 collaboration

Ashley McFarquhar 1 collaboration

Martin R Higgs 1 collaboration

Audrey E Christiansen 1 collaboration

Denise G Lanza 1 collaboration

John R Seavitt 1 collaboration

Mahim Jain 1 collaboration

Xiaohui Li 1 collaboration

David A Parry 1 collaboration

Vandana Raman 1 collaboration

David Chitayat 1 collaboration

Ivan K Chinn 1 collaboration

Alison A Bertuch 1 collaboration

Lefkothea Karaviti 1 collaboration

Alan E Schlesinger 1 collaboration

Dawn Earl 1 collaboration

Michael Bamshad 1 collaboration

Ravi Savarirayan 1 collaboration

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Donna Muzny 1 collaboration

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Christine M Eng 1 collaboration

Richard A Gibbs 1 collaboration

Weimin Bi 1 collaboration

John Postlethwait 1 collaboration

Monte Westerfield 1 collaboration

Mary E Dickinson 1 collaboration

Arthur L Beaudet 1 collaboration

Celine Huber 1 collaboration

Wei Shen 1 collaboration

Rong Mao 1 collaboration

Jason D Heaney 1 collaboration

Jordan S Orange 1 collaboration

Débora Bertola 1 collaboration

Guilherme L Yamamoto 1 collaboration

Wagner A R Baratela 1 collaboration

Merlin G Butler 1 collaboration

Asim Ali 1 collaboration

Mehdi Adeli 1 collaboration

Daniel H Cohn 1 collaboration

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Andrew P Jackson 1 collaboration

Melissa Lees 1 collaboration

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Colleen M Carlston 1 collaboration

John C Carey 1 collaboration

Grant S Stewart 1 collaboration

Carlos A Bacino 1 collaboration

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Brendan Lee 1 collaboration

Anna Peirolo 1 collaboration

Ludivine Coulon 1 collaboration

Judit Horvath 1 collaboration

Pierre R Burkhard 1 collaboration

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Harpreet Dibra 1 collaboration

Alexander Malcolm R Taylor 1 collaboration

Joel Fluss 1 collaboration

Ke Mao 1 collaboration

Christelle Borel 1 collaboration

Angad Jolly 1 collaboration

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Bingqing Wang 1 collaboration

Xiaopeng Xu 1 collaboration

Qiang Li 1 collaboration

Hao Zhu 1 collaboration

Qi Chen 1 collaboration

Fujun Jin 1 collaboration

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Sunita Singh 1 collaboration

Hongyuan Zhang 1 collaboration

Xiaogang Wang 1 collaboration

Peiwei Chen 1 collaboration

Syed Fahim Shah 1 collaboration

Valentina Guida 1 collaboration

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Daniela Melis 1 collaboration

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Maria Cristina Digilio 1 collaboration

Antonio Novelli 1 collaboration

Monia Magliozzi 1 collaboration

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Haley Streff 1 collaboration

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Richard A Lewis 1 collaboration

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Shouqin Zhao 1 collaboration

Timothy C Cox 1 collaboration

Andrew K Groves 1 collaboration

James R Lupski 1 collaboration

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Yong-Biao Zhang 1 collaboration

Matthew R Taylor 1 collaboration

E Anne Martin 1 collaboration

Brooke Sinnen 1 collaboration

Rajdeep Trilokekar 1 collaboration

Megan E Williams 1 collaboration

Andreea Manole 1 collaboration

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Emer O'Connor 1 collaboration

Marisa I Mendes 1 collaboration

Matthew Jennings 1 collaboration

Reza Maroofian 1 collaboration

Indran Davagnanam 1 collaboration

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Maria Rodriguez Lopez 1 collaboration

Vincenzo Salpietro 1 collaboration

Ricardo Harripaul 1 collaboration

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Jagdeep Walia 1 collaboration

Christopher S Francklyn 1 collaboration

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Roisin Sullivan 1 collaboration

Sonal Desai 1 collaboration

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Ruben Portier 1 collaboration

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Lu Wang 1 collaboration

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Yue Si 1 collaboration

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Marisa V Andrews 1 collaboration

Heinz Gabriel 1 collaboration

Julia Mohr 1 collaboration

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John B Vincent 1 collaboration

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Anne Marie Jelsig 1 collaboration

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Marybeth Hummel 1 collaboration

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Felix Distelmaier 1 collaboration

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Joseph G Gleeson 1 collaboration

Hubert Becker 1 collaboration

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Alain Verloes 1 collaboration

Yline Capri 1 collaboration

Charles Marques 1 collaboration

Martine Auclair 1 collaboration

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Julien Thevenon 1 collaboration

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Ali Al-Otaibi 1 collaboration

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Thomas A Ravenscroft 1 collaboration

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Affiliations

Publications (30)

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Rehabilitative treatment of patients with COVID-19 infection: the P.A.R.M.A. evidence based clinical practice protocol.

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

[Genetics of hearing disorders in children].

Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

Post-COVID-19 Ongoing Symptoms and Health-Related Quality of Life: Does Rehabilitation Matter?: Preliminary Evidence.

Réseau de co-auteurs