Birgit Krabichler

Innsbruck, Austria

Last Updated: 09/26/2026

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Found 17 publications

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

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

Journal: Molecular genetics & genomic medicine
Published: August 14, 2018

SYNE1-ataxia: Novel genotypic and phenotypic findings.

SYNE1-ataxia: Novel genotypic and phenotypic findings.

Journal: Parkinsonism & related disorders
Published: July 21, 2018

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.

Journal: Neuropediatrics
Published: June 26, 2018

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

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

Journal: Clinical genetics
Published: May 25, 2018

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

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

Journal: European journal of medical genetics
Published: April 02, 2018

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

Journal: Clinical genetics
Published: November 24, 2016

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Journal: European journal of human genetics : EJHG
Published: May 27, 2016

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

Journal: Journal of medical genetics
Published: May 18, 2016

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Journal: Nature communications
Published: December 01, 2015

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Journal: European journal of medical genetics
Published: March 25, 2015

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Journal: American journal of medical genetics. Part A
Published: November 11, 2014

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Journal: American journal of human genetics
Published: June 22, 2014
Showing 1-12 of 17

Last Updated: 09/26/2026