Publications by authors named "Birgit Krabichler"

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A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Iris Unterberger, Judith Dobesberger, Harald Schober, Birgit Krabichler, Claudia Lamina

Eur J Med Genet· November 2019

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SYNE1-ataxia: Novel genotypic and phenotypic findings.
Elisabetta Indelicato, Wolfgang Nachbauer, Christine Fauth, Birgit Krabichler, Anna Schossig

Parkinsonism Relat Disord· May 2019

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Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Dulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, Naseebullah Kakar, Jamil Ahmad, Birgit Krabichler

Mol Genet Genomic Med· March 2019

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MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Matthias Baumann, Herbert Schreiber, Beate Schlotter-Weigel, Wolfgang N Löscher, Rolf Stucka, Birgit Krabichler

Clin Genet· January 2019

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PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Bader Alhaddad, Anna Schossig, Tobias B Haack, Reka Kovács-Nagy, Matthias C Braunisch, Birgit Krabichler

Neuropediatrics· October 2018

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Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber

Eur J Hum Genet· February 2017

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SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Anna Schossig, Agnès Bloch-Zupan, Adrian Lussi, Nicole I Wolf, Salmo Raskin, Birgit Krabichler

J Med Genet· January 2017

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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Uschi Lindert, Wayne A Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Birgit Krabichler

Nat Commun· July 2016

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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.
Andreas R Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach

Am J Med Genet A· January 2016

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Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.
Olaf Rittinger, Birgit Krabichler, Gabriela Kronberger, Dieter Kotzot

Eur J Med Genet· November 2015

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Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Rocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Birgit Krabichler

Am J Hum Genet· September 2014

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A survey of tools for variant analysis of next-generation genome sequencing data.
Stephan Pabinger, Andreas Dander, Maria Fischer, Rene Snajder, Michael Sperk, Birgit Krabichler

Brief Bioinform· March 2014

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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.
Anya Blassnig-Ezeh, Claude Bandelier, Anne Frühmesser, Nicole Revencu, Birgit Krabichler

Am J Med Genet A· December 2013

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Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Annette F Baas, Michael Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphael, Birgit Krabichler

Eur J Hum Genet· January 2013

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Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
Birgit Krabichler, Kevin Rostasy, Matthias Baumann, Daniela Karall, Sabine Scholl-Bürgi

Ann Hum Genet· July 2012

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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi

Am J Hum Genet· February 2012

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Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
Franco Laccone, Katharina Schoner, Birgit Krabichler, Britta Kluge, Robin Schwerdtfeger

Eur J Hum Genet· November 2011

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Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, Birgit Krabichler, Tania Attie-Bitach

Am J Med Genet A· October 2011

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Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Birgit Krabichler

Am J Hum Genet· December 2009

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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, Melanie Schranz, Christian Becker

Am J Hum Genet· February 2009

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