Gabriella Gazdagh

None None 4 collaborations

Diana Baralle 3 collaborations

Justin H Davies 3 collaborations

David Hunt 2 collaborations

Monserrat Pons Rodriguez 2 collaborations

Ayeshah Chaudhry 2 collaborations

Deborah Shears 2 collaborations

Marcos Madruga 2 collaborations

Fleur Vansenne 2 collaborations

Aurore Curie 2 collaborations

Anne Debant 2 collaborations

Susanne Schmidt 2 collaborations

Meriel McEntagart 2 collaborations

Edward S Tobias 2 collaborations

Deborah J G Mackay 2 collaborations

Angela K Lucas-Herald 2 collaborations

S Faisal Ahmed 2 collaborations

Maxime Bonnet 1 collaboration

Fiona Roche 1 collaboration

Christine Fagotto-Kaufmann 1 collaboration

Iona Truong 1 collaboration

Franck Comunale 1 collaboration

Sonia Barbosa 1 collaboration

Marion Bonhomme 1 collaboration

Nicolas Nafati 1 collaboration

Andrey V Kajava 1 collaboration

Coralie Fassier 1 collaboration

Moira Blyth 1 collaboration

Ingrid Scurr 1 collaboration

Peter D Turnpenny 1 collaboration

Sarju G Mehta 1 collaboration

Ruth Armstrong 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Shelagh Joss 1 collaboration

Ahmed S N Alhendi 1 collaboration

Derek Lim 1 collaboration

Dominic McMullan 1 collaboration

Michael Wright 1 collaboration

I Karen Temple 1 collaboration

Anna Maria Cueto Gonzalez 1 collaboration

Eva-Lena Stattin 1 collaboration

Britt-Marie Anderlid 1 collaboration

Slavica Trajkova 1 collaboration

Elena Sukarova Angelovska 1 collaboration

Catherine McWilliam 1 collaboration

Philip R Wyatt 1 collaboration

Mary O'Driscoll 1 collaboration

Giles Atton 1 collaboration

Anke K Bergman 1 collaboration

Pia Zacher 1 collaboration

Leena D Mewasingh 1 collaboration

Antonio Gonzalez-Meneses López 1 collaboration

Olga Alonso-Luengo 1 collaboration

Htoo A Wai 1 collaboration

Ottilie Rohde 1 collaboration

Pauline Boiroux 1 collaboration

Rebecca Mawby 1 collaboration

Jay E Self 1 collaboration

Danielle Sagar 1 collaboration

Augusto C Montezano 1 collaboration

Francisco J Rios 1 collaboration

Livia De Lucca Camargo 1 collaboration

Graham Hamilton 1 collaboration

Louise A Diver 1 collaboration

Nicola Williams 1 collaboration

Pawel Herzyk 1 collaboration

Rhian M Touyz 1 collaboration

Andy Greenfield 1 collaboration

Ruth McGowan 1 collaboration

David Monk 1 collaboration

Frederic Brioude 1 collaboration

Eloise Giabicani 1 collaboration

Izabela M Krzyzewska 1 collaboration

Jennifer M Kalish 1 collaboration

Saskia M Maas 1 collaboration

Masayo Kagami 1 collaboration

Jasmin Beygo 1 collaboration

Tiina Kahre 1 collaboration

Jair Tenorio-Castano 1 collaboration

Laima Ambrozaitytė 1 collaboration

Birutė Burnytė 1 collaboration

Flavia Cerrato 1 collaboration

Giovanni Battista Ferrero 1 collaboration

Olga Fjodorova 1 collaboration

Africa Manero-Azua 1 collaboration

Arrate Pereda 1 collaboration

Silvia Russo 1 collaboration

Pierpaola Tannorella 1 collaboration

Karen I Temple 1 collaboration

Katrin Õunap 1 collaboration

Andrea Riccio 1 collaboration

Guiomar Perez de Nanclares 1 collaboration

Eamonn R Maher 1 collaboration

Pablo Lapunzina 1 collaboration

Irène Netchine 1 collaboration

Thomas Eggermann 1 collaboration

Jet Bliek 1 collaboration

Zeynep Tümer 1 collaboration

Sulagna Tina Kushary 1 collaboration

Anya Revah-Politi 1 collaboration

Subit Barua 1 collaboration

Mythily Ganapathi 1 collaboration

Andrea Accogli 1 collaboration

Vimla Aggarwal 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Gerarda Cappuccio 1 collaboration

Valeria Capra 1 collaboration

Christina R Fagerberg 1 collaboration

Edwin Guzman 1 collaboration

Medard Hadonou 1 collaboration

Victoria Harrison 1 collaboration

Kathrine Havelund 1 collaboration

Daniela Iancu 1 collaboration

Alison Kraus 1 collaboration

Natalie C Lippa 1 collaboration

Mahesh Mansukhani 1 collaboration

Danielle McBrian 1 collaboration

Marta Pacio-Míguez 1 collaboration

María Palomares-Bralo 1 collaboration

Carrie Pottinger 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Oliviero Sacco 1 collaboration

Gijs W E Santen 1 collaboration

Fernando Santos-Simarro 1 collaboration

Marcello Scala 1 collaboration

John Short 1 collaboration

Kristina P Sørensen 1 collaboration

Christopher G Woods 1 collaboration

Kwame Anyane Yeboa 1 collaboration

Kathryn Scougall 1 collaboration

Jillian Bryce 1 collaboration

Federico Baronio 1 collaboration

Rachel L Boal 1 collaboration

Jose Roberto Castera 1 collaboration

Sebastián Castro 1 collaboration

Tim Cheetham 1 collaboration

Eduardo Corrêa Costa 1 collaboration

Feyza Darendeliler 1 collaboration

Mirjam Dirlewanger 1 collaboration

Evgenia Globa 1 collaboration

Gil Guerra-Junior 1 collaboration

Tulay Guran 1 collaboration

Gloria Herrmann 1 collaboration

Paul-Martin Holterhus 1 collaboration

Ahsen Karagözlü Akgül 1 collaboration

Renata Markosyan 1 collaboration

Kenneth McElreavey 1 collaboration

Marcio Lopes Miranda 1 collaboration

Anna Nordenstrom 1 collaboration

Stuart O'Toole 1 collaboration

Sukran Poyrazoglu 1 collaboration

Gianni Russo 1 collaboration

Valerie Schwitzgebel 1 collaboration

Marianna Stancampiano 1 collaboration

Michael Steigert 1 collaboration

Affiliations

Publications (9)

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Réseau de co-auteurs