Birgit Krabichler

Affiliations

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria.

Publications (4)

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

European journal of medical genetics

Avec: Iris Unterberger , Judith Dobesberger , Harald Schober , Birgit Krabichler , Claudia Lamina , Ulrich Schatz , Johannes Zschocke , Gerhard Luef , Dieter Kotzot , Christine Fauth

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Molecular genetics & genomic medicine

Avec: Dulce Lima Cunha , Omar Mohammed Alakloby , Robert Gruber , Naseebullah Kakar , Jamil Ahmad , Salem Alawbathani , Roswitha Plank , Katja Eckl , Birgit Krabichler , Janine Altmüller , Peter Nürnberg , Johannes Zschocke , Guntram Borck , Matthias Schmuth , Adnan S Alabdulkareem , Kholood Abdulaziz Alnutaifi , Hans Christian Hennies

MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.

Clinical genetics

Avec: Matthias Baumann , Herbert Schreiber , Beate Schlotter-Weigel , Wolfgang N Löscher , Rolf Stucka , Daniela Karall , Tim M Strom , Peter Bauer , Birgit Krabichler , Christine Fauth , Dieter Glaeser , Jan Senderek

SYNE1-ataxia: Novel genotypic and phenotypic findings.

Parkinsonism & related disorders

Avec: Elisabetta Indelicato , Wolfgang Nachbauer , Christine Fauth , Birgit Krabichler , Anna Schossig , Andreas Eigentler , Wolfgang Dichtl , Gregor Wenning , Michaela Wagner , Alessandra Fanciulli , Andreas Janecke , Sylvia Boesch

Réseau de co-auteurs

Christine Fauth 3 collaborations

Johannes Zschocke 2 collaborations

Iris Unterberger 1 collaboration

Judith Dobesberger 1 collaboration

Harald Schober 1 collaboration

Claudia Lamina 1 collaboration

Ulrich Schatz 1 collaboration

Gerhard Luef 1 collaboration

Dieter Kotzot 1 collaboration

Dulce Lima Cunha 1 collaboration

Omar Mohammed Alakloby 1 collaboration

Robert Gruber 1 collaboration

Naseebullah Kakar 1 collaboration

Jamil Ahmad 1 collaboration

Salem Alawbathani 1 collaboration

Roswitha Plank 1 collaboration

Katja Eckl 1 collaboration

Janine Altmüller 1 collaboration

Peter Nürnberg 1 collaboration

Guntram Borck 1 collaboration

Matthias Schmuth 1 collaboration

Adnan S Alabdulkareem 1 collaboration

Kholood Abdulaziz Alnutaifi 1 collaboration

Hans Christian Hennies 1 collaboration

Matthias Baumann 1 collaboration

Herbert Schreiber 1 collaboration

Beate Schlotter-Weigel 1 collaboration

Wolfgang N Löscher 1 collaboration

Rolf Stucka 1 collaboration

Daniela Karall 1 collaboration

Tim M Strom 1 collaboration

Peter Bauer 1 collaboration

Dieter Glaeser 1 collaboration

Jan Senderek 1 collaboration

Elisabetta Indelicato 1 collaboration

Wolfgang Nachbauer 1 collaboration

Anna Schossig 1 collaboration

Andreas Eigentler 1 collaboration

Wolfgang Dichtl 1 collaboration

Gregor Wenning 1 collaboration

Michaela Wagner 1 collaboration

Alessandra Fanciulli 1 collaboration

Andreas Janecke 1 collaboration

Sylvia Boesch 1 collaboration