Dieter Kotzot

Johannes A Mayr 3 collaborations

René G Feichtinger 2 collaborations

Christine Fauth 2 collaborations

R Heregger 1 collaboration

F Huemer 1 collaboration

G Hutarew 1 collaboration

S Hecht 1 collaboration

L Cheveresan 1 collaboration

D Kotzot 1 collaboration

E Schamschula 1 collaboration

G Rinnerthaler 1 collaboration

T Melchardt 1 collaboration

L Weiss 1 collaboration

R Greil 1 collaboration

Deepika D'Cunha Burkardt 1 collaboration

Anna Zachariou 1 collaboration

Chey Loveday 1 collaboration

Clare L Allen 1 collaboration

David J Amor 1 collaboration

Anna Ardissone 1 collaboration

Siddharth Banka 1 collaboration

Alexia Bourgois 1 collaboration

Christine Coubes 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Laurence Faivre 1 collaboration

Gerard Marion 1 collaboration

Rachel Horton 1 collaboration

Guillermo Lay-Son 1 collaboration

Melissa Lees 1 collaboration

Karen Low 1 collaboration

Ho-Ming Luk 1 collaboration

Paul Mark 1 collaboration

Allyn McConkie-Rosell 1 collaboration

Marie McDonald 1 collaboration

John Pappas 1 collaboration

Christophe Phillipe 1 collaboration

Deborah Shears 1 collaboration

Brian Skotko 1 collaboration

Fiona Stewart 1 collaboration

Helen Stewart 1 collaboration

I Karen Temple 1 collaboration

Frederic T Mau-Them 1 collaboration

Ricardo A Verdugo 1 collaboration

Rosanna Weksberg 1 collaboration

Yuri A Zarate 1 collaboration

John M Graham 1 collaboration

Katrina Tatton-Brown 1 collaboration

Andreas Hüllen 1 collaboration

Andreas Koller 1 collaboration

Valerian Grote 1 collaboration

Erdmann Rapp 1 collaboration

Peter Hofbauer 1 collaboration

Karin Brugger 1 collaboration

Christian Thiel 1 collaboration

Saskia B Wortmann 1 collaboration

Martin Krenn 1 collaboration

Monika Schloegl 1 collaboration

Ekaterina Pataraia 1 collaboration

Ellen Gelpi 1 collaboration

Sebastian Schröder 1 collaboration

Christian Rauscher 1 collaboration

Fritz Zimprich 1 collaboration

Thomas Meitinger 1 collaboration

Matias Wagner 1 collaboration

Iris Unterberger 1 collaboration

Judith Dobesberger 1 collaboration

Harald Schober 1 collaboration

Birgit Krabichler 1 collaboration

Claudia Lamina 1 collaboration

Ulrich Schatz 1 collaboration

Johannes Zschocke 1 collaboration

Gerhard Luef 1 collaboration

Alfred Klausegger 1 collaboration

Niklas Jeschko 1 collaboration

Markus Grammer 1 collaboration

Jan Cemper-Kiesslich 1 collaboration

Franz Neuhuber 1 collaboration

Anja Diem 1 collaboration

Hannelore Breitenbach-Koller 1 collaboration

Gabriele Sander 1 collaboration

Johann Wolfgang Bauer 1 collaboration

Martin Laimer 1 collaboration

Milan Zimmermann 1 collaboration

Stefanie Schuster 1 collaboration

Sylvia Boesch 1 collaboration

G Christoph Korenke 1 collaboration

Julia Mohr 1 collaboration

Jennifer Reichbauer 1 collaboration

Christoph Kernstock 1 collaboration

Veronika Spahlinger 1 collaboration

Rebecca Schüle-Freyer 1 collaboration

Ludger Schöls 1 collaboration

Julia Brinkmann 1 collaboration

Christina Lissewski 1 collaboration

Valentina Pinna 1 collaboration

Yoann Vial 1 collaboration

Francesca Pantaleoni 1 collaboration

Francesca Lepri 1 collaboration

Paola Daniele 1 collaboration

Birute Burnyte 1 collaboration

Goran Cuturilo 1 collaboration

Alper Gezdirici 1 collaboration

Elif Yılmaz Güleç 1 collaboration

Violeta Iotova 1 collaboration

Denny Schanze 1 collaboration

Francis Ramond 1 collaboration

Markéta Havlovicová 1 collaboration

Gulen Eda Utine 1 collaboration

Pelin Ozlem Simsek-Kiper 1 collaboration

Milena Stoyanova 1 collaboration

Alain Verloes 1 collaboration

Alessandro De Luca 1 collaboration

Marco Tartaglia 1 collaboration

Hélène Cavé 1 collaboration

Martin Zenker 1 collaboration

Caroline Dias 1 collaboration

Rolph Pfundt 1 collaboration

Tjitske Kleefstra 1 collaboration

Janneke Shuurs-Hoeijmakers 1 collaboration

Elles M J Boon 1 collaboration

Johanna M van Hagen 1 collaboration

Petra Zwijnenburg 1 collaboration

Marjan M Weiss 1 collaboration

Boris Keren 1 collaboration

Cyril Mignot 1 collaboration

Arnaud Isapof 1 collaboration

Karin Weiss 1 collaboration

Tova Hershkovitz 1 collaboration

Maria Iascone 1 collaboration

Silvia Maitz 1 collaboration

Tawfeg Ben-Omran 1 collaboration

Laila Mahmoud 1 collaboration

Lynn S Pais 1 collaboration

Christopher A Walsh 1 collaboration

Vandana Shashi 1 collaboration

Jennifer A Sullivan 1 collaboration

Nicholas Stong 1 collaboration

Francois Lecoquierre 1 collaboration

Anne-Marie Guerrot 1 collaboration

Aude Charollais 1 collaboration

Lance H Rodan 1 collaboration

Affiliations

Publications (9)

Sustained response to brigatinib in a patient with refractory metastatic pheochromocytoma harboring R1192P anaplastic lymphoma kinase mutation: a case report from the Austrian Group Medical Tumor Therapy next-generation sequencing registry and discussion of the literature.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.

Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Réseau de co-auteurs