Julia Vodopiutz

Andreas R Janecke 9 collaborations

Thomas Müller 5 collaborations

Dorota Garczarczyk-Asim 2 collaborations

Philipp Steinbauer 2 collaborations

Dietmar Rieder 2 collaborations

A S Knisely 2 collaborations

Stephanie Waich 2 collaborations

Andreas Entenmann 2 collaborations

Gabriel T Mindler 2 collaborations

Susanne Greber-Platzer 2 collaborations

Lisa-Maria Steurer 1 collaboration

Florentina Haufler 1 collaboration

Franco Laccone 1 collaboration

Matthias Hilkenmeier 1 collaboration

Georg-Friedrich Vogel 1 collaboration

Alexandra Podpeskar 1 collaboration

Helin Salzer 1 collaboration

Li Wang 1 collaboration

Kuerbanjiang Abuduxikuer 1 collaboration

Jian-She Wang 1 collaboration

Anke Scharrer 1 collaboration

Eissa Ali Faqeih 1 collaboration

Ali T Aseeri 1 collaboration

Andreas Heilos 1 collaboration

Judith Pichler 1 collaboration

Wolf-Dietrich Huber 1 collaboration

Anne Roscher 1 collaboration

Michaela Brunner-Krainz 1 collaboration

Gerard Cortina 1 collaboration

Gerhard Köstl 1 collaboration

Rene G Feichtinger 1 collaboration

Johannes A Mayr 1 collaboration

Sandy Siegert 1 collaboration

Christof Brücke 1 collaboration

Andreas Kranzl 1 collaboration

Janina Patsch 1 collaboration

Markus Ritter 1 collaboration

Illja J Diets 1 collaboration

Roos van der Donk 1 collaboration

Kristina Baltrunaite 1 collaboration

Esmé Waanders 1 collaboration

Margot R F Reijnders 1 collaboration

Alexander J M Dingemans 1 collaboration

Rolph Pfundt 1 collaboration

Anneke T Vulto-van Silfhout 1 collaboration

Laurens Wiel 1 collaboration

Christian Gilissen 1 collaboration

Julien Thevenon 1 collaboration

Laurence Perrin 1 collaboration

Alexandra Afenjar 1 collaboration

Caroline Nava 1 collaboration

Boris Keren 1 collaboration

Sarah Bartz 1 collaboration

Bethany Peri 1 collaboration

Gea Beunders 1 collaboration

Nienke Verbeek 1 collaboration

Koen van Gassen 1 collaboration

Isabelle Thiffault 1 collaboration

Maxime Cadieux-Dion 1 collaboration

Lina Huerta-Saenz 1 collaboration

Matias Wagner 1 collaboration

Vassiliki Konstantopoulou 1 collaboration

Matthias Griese 1 collaboration

Annekatrien Boel 1 collaboration

Bert Callewaert 1 collaboration

Han G Brunner 1 collaboration

Tjitske Kleefstra 1 collaboration

Nicoline Hoogerbrugge 1 collaboration

Bert B A de Vries 1 collaboration

Vivian Hwa 1 collaboration

Andrew Dauber 1 collaboration

Jayne Y Hehir-Kwa 1 collaboration

Roland P Kuiper 1 collaboration

Marjolijn C J Jongmans 1 collaboration

Nina-Katharina Walleczek 1 collaboration

Kristina Förster 1 collaboration

Martina Seyr 1 collaboration

Nadja Kadrnoska 1 collaboration

Jennifer Kolar 1 collaboration

Verena Wasinger-Brandweiner 1 collaboration

Silvio Boero 1 collaboration

Mohamad Maghnie 1 collaboration

Josep M de Bergua 1 collaboration

Ignacio Ginebreda 1 collaboration

Hiroshi Kitoh 1 collaboration

Micha Langendörfer 1 collaboration

Antonio Leiva-Gea 1 collaboration

Jason Malone 1 collaboration

Philip McClure 1 collaboration

Dmitry Popkov 1 collaboration

Robert Rodl 1 collaboration

Pablo Rosselli 1 collaboration

Fabio Verdoni 1 collaboration

Viktor Vilenskii 1 collaboration

Aaron J Huser 1 collaboration

Shuji Mizumoto 1 collaboration

Azita Sadeghpour 1 collaboration

Gundula Povysil 1 collaboration

Marie T McDonald 1 collaboration

Sheila Unger 1 collaboration

Kristen L Deak 1 collaboration

Nicholas Katsanis 1 collaboration

Andrea Superti-Furga 1 collaboration

Kazuyuki Sugahara 1 collaboration

Erica E Davis 1 collaboration

Shuhei Yamada 1 collaboration

Marlene Panzer 1 collaboration

André Viveiros 1 collaboration

Benedikt Schaefer 1 collaboration

Nadja Baumgartner 1 collaboration

Klaus Seppi 1 collaboration

Atbin Djamshidian 1 collaboration

Theodor Todorov 1 collaboration

William J H Griffiths 1 collaboration

Eckart Schott 1 collaboration

Markus Schuelke 1 collaboration

Dennis Eurich 1 collaboration

Albert Friedrich Stättermayer 1 collaboration

Adrian Bomford 1 collaboration

Pierre Foskett 1 collaboration

Rudolf Stauber 1 collaboration

Elke Pertler 1 collaboration

Bernhard Morell 1 collaboration

Herbert Tilg 1 collaboration

Stefan Kiechl 1 collaboration

Raul Jimenez-Heredia 1 collaboration

Karl Heinz Weiss 1 collaboration

Si Houn Hahn 1 collaboration

Andreas Janecke 1 collaboration

Peter Ferenci 1 collaboration

Heinz Zoller 1 collaboration

Henry Oppermann 1 collaboration

Elia Marcos-Grañeda 1 collaboration

Linnea A Weiss 1 collaboration

Christina A Gurnett 1 collaboration

Anne Marie Jelsig 1 collaboration

Susanne H Vineke 1 collaboration

Bertrand Isidor 1 collaboration

Sandra Mercier 1 collaboration

Kari Magnussen 1 collaboration

Pia Zacher 1 collaboration

Mona Hashim 1 collaboration

Alistair T Pagnamenta 1 collaboration

Simone Race 1 collaboration

Siddharth Srivastava 1 collaboration

Zoë Frazier 1 collaboration

Robert Maiwald 1 collaboration

Matthias Pergande 1 collaboration

Donatella Milani 1 collaboration

Martina Rinelli 1 collaboration

Jonathan Levy 1 collaboration

Ilona Krey 1 collaboration

Paolo Fontana 1 collaboration

Fortunato Lonardo 1 collaboration

Stephanie Riley 1 collaboration

Jasmine Kretzer 1 collaboration

Julia Rankin 1 collaboration

Linda M Reis 1 collaboration

Elena V Semina 1 collaboration

Miriam S Reuter 1 collaboration

Stephen W Scherer 1 collaboration

Maria Iascone 1 collaboration

Denisa Weis 1 collaboration

Christina R Fagerberg 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Lars Kjaersgaard Hansen 1 collaboration

Alma Kuechler 1 collaboration

Nathan Noble 1 collaboration

Alice Gardham 1 collaboration

Jessica Tenney 1 collaboration

Geetanjali Rathore 1 collaboration

Stefanie Beck-Woedl 1 collaboration

Tobias B Haack 1 collaboration

Despoina C Pavlidou 1 collaboration

Isis Atallah 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Hellen Lesmann 1 collaboration

Hannah Klinkhammer 1 collaboration

Peter M Krawitz 1 collaboration

Johannes R Lemke 1 collaboration

Rami Abou Jamra 1 collaboration

Marta Nieto 1 collaboration

Zeynep Tümer 1 collaboration

Konrad Platzer 1 collaboration

Walther Parson 1 collaboration

Lukas A Huber 1 collaboration

Taras Valovka 1 collaboration

Lasse Holt-Danborg 1 collaboration

Annika W Nonboe 1 collaboration

Jan De Laffolie 1 collaboration

Signe Skovbjerg 1 collaboration

Victorien M Wolters 1 collaboration

Benjamin Hetzer 1 collaboration

Alexander Querfurt 1 collaboration

Klaus-Peter Zimmer 1 collaboration

Jan K Jensen 1 collaboration

Peter Heinz-Erian 1 collaboration

Lotte K Vogel 1 collaboration

Markus Breu 1 collaboration

Chiara Häfele 1 collaboration

Petra Trimmel-Schwahofer 1 collaboration

Wolfgang M Schmidt 1 collaboration

Franco Laconne 1 collaboration

Christoph Male 1 collaboration

Anastasia Dressler 1 collaboration

Jil D Stegmann 1 collaboration

Jeshurun C Kalanithy 1 collaboration

Gabriel C Dworschak 1 collaboration

Nina Ishorst 1 collaboration

Enrico Mingardo 1 collaboration

Filipa M Lopes 1 collaboration

Yee Mang Ho 1 collaboration

Phillip Grote 1 collaboration

Tobias T Lindenberg 1 collaboration

Öznur Yilmaz 1 collaboration

Khadija Channab 1 collaboration

Steve Seltzsam 1 collaboration

Shirlee Shril 1 collaboration

Friedhelm Hildebrandt 1 collaboration

Felix Boschann 1 collaboration

André Heinen 1 collaboration

Angad Jolly 1 collaboration

Katherine Myers 1 collaboration

Kim McBride 1 collaboration

Mir Reza Bekheirnia 1 collaboration

Nasim Bekheirnia 1 collaboration

Marcello Scala 1 collaboration

Manuela Morleo 1 collaboration

Vincenzo Nigro 1 collaboration

Annalaura Torella 1 collaboration

None None 1 collaboration

Michele Pinelli 1 collaboration

Valeria Capra 1 collaboration

Andrea Accogli 1 collaboration

Silvia Maitz 1 collaboration

Alice Spano 1 collaboration

Rory J Olson 1 collaboration

Eric W Klee 1 collaboration

Brendan C Lanpher 1 collaboration

Se Song Jang 1 collaboration

Jong-Hee Chae 1 collaboration

Ida Vogel 1 collaboration

Jenny Blechingberg 1 collaboration

Jennifer L Cohen 1 collaboration

Kacie Riley 1 collaboration

Victoria Klee 1 collaboration

Laurence E Walsh 1 collaboration

Matthias Begemann 1 collaboration

Miriam Elbracht 1 collaboration

Thomas Eggermann 1 collaboration

Arzu Stoppe 1 collaboration

Kyra Stuurman 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Maureen S Mulhern 1 collaboration

Tristan T Sands 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Rosanna Weksberg 1 collaboration

Federica Isidori 1 collaboration

Tommaso Pippucci 1 collaboration

Giulia Severi 1 collaboration

Francesca Montanari 1 collaboration

Michael C Kruer 1 collaboration

Somayeh Bakhtiari 1 collaboration

Hossein Darvish 1 collaboration

Heiko Reutter 1 collaboration

Gregor Hagelueken 1 collaboration

Matthias Geyer 1 collaboration

Adrian S Woolf 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Benjamin Odermatt 1 collaboration

Alina C Hilger 1 collaboration

Affiliations

Publications (14)

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous

Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

Expanding the Phenotype of the

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management.

International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study.

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

The relation of etiology based on the 2017 ILAE classification to the effectiveness of the ketogenic diet in drug-resistant epilepsy in childhood.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Réseau de co-auteurs