Sabine Uhrig
Graz, 8010, Austria
Last Updated: 09/26/2026
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Found 9 publications
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Journal: Oxidative medicine and cellular longevity
Published: January 26, 2017
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Journal: European journal of human genetics : EJHG
Published: April 17, 2015
Congenital pulmonary lymphangiectasis.
Journal: Paediatric respiratory reviews
Published: May 09, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Journal: European journal of human genetics : EJHG
Published: January 31, 2014
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
Journal: Journal of medical genetics
Published: January 17, 2014
Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Journal: Klinische Padiatrie
Published: November 13, 2012
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Journal: American journal of medical genetics. Part A
Published: July 17, 2012
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
Journal: European journal of gastroenterology & hepatology
Published: May 24, 2012
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
Journal: BMC medical genetics
Published: March 06, 2012
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Last Updated: 09/26/2026