Christine Fauth

Innsbruck, Austria

Last Updated: 09/26/2026

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Found 46 publications

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Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: April 27, 2026

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Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: April 23, 2026

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Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: April 23, 2026

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.

Journal: Frontiers in genetics
Published: March 23, 2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics
Published: September 13, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Journal: medRxiv : the preprint server for health sciences
Published: August 16, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Journal: Nature communications
Published: July 14, 2024

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Journal: European journal of human genetics : EJHG
Published: January 26, 2024

Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl.

Treatment of psychiatric comorbidities and interaction patterns in Coffin-Siris syndrome: A case report of a 4-year-old girl.

Journal: Clinical case reports
Published: September 14, 2023

Gonadal and gonadosomatic mosaicism in NF1: report of two families.

Gonadal and gonadosomatic mosaicism in NF1: report of two families.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: July 06, 2023

Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.

Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.

Journal: Stem cell research
Published: February 02, 2022

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

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

Journal: European journal of human genetics : EJHG
Published: March 18, 2020
Showing 1-12 of 46

Last Updated: 09/26/2026