Publications by authors named "Sabine Uhrig"

Claim this Profile
A
A second hotspot for pathogenic exon-skipping variants in CDC45.
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Cao, Sabine Uhrig

Eur J Hum Genet· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, Peter D Turnpenny, Sabine Uhrig

Ann Neurol· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Combined Respiratory Chain Deficiency and Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Sabine Uhrig

Oxid Med Cell Longev· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL.
Benjamin Roeben, Sabine Uhrig, Benjamin Bender, Matthis Synofzik

Neurology· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Sabine Uhrig

Eur J Hum Genet· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miaczynska, Sabine Uhrig

Eur J Hum Genet· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Congenital pulmonary lymphangiectasis.
Friedrich Reiterer, Karin Grossauer, Nicholas Morris, Sabine Uhrig, Bernhard Resch

Paediatr Respir Rev· September 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
Markus G Seidel, Celia Duerr, Stavroula Woutsas, Anette Schwerin-Nagel, Kambis Sadeghi, Sabine Uhrig

J Med Genet· April 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper, Michael R Speicher

Am J Med Genet A· July 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.
Verena Schwetz, Sabine Uhrig, Ekkehard Spuller, Andrea Deutschmann, Christoph Högenauer

Eur J Gastroenterol Hepatol· August 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
Bert Nagel, Ursula Gruber-Sedlmayr, Sabine Uhrig, Claudia Stöllberger, Eva Klopocki

BMC Med Genet· July 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.
Petra Sovinz, Christian Urban, Sabine Uhrig, Vinzenz Stepan, Herwig Lackner

Am J Med Genet A· July 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Michaela Auer-Grumbach, Andrea Olschewski, Lea Papić, Hannie Kremer, Meriel E McEntagart, Sabine Uhrig

Nat Genet· February 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Sabine Uhrig, Dietmar Schlembach, Julie Waldispuehl-Geigl, Werner Schaffer, Jochen Geigl

Am J Hum Genet· October 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multiplex-fluorescence in situ hybridization for chromosome karyotyping.
Jochen B Geigl, Sabine Uhrig, Michael R Speicher

Nat Protoc· June 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Genetic counseling in multiple pregnancies].
Sabine Uhrig, Jochen B Geigl, Michael R Speicher

Gynakol Geburtshilfliche Rundsch· April 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
Christine Fauth, Susan M Gribble, Keith M Porter, Montserrat Codina-Pascual, Bee Ling Ng, Sabine Uhrig

Hum Genet· March 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Delphine Trochet, Louise M O'Brien, David Gozal, Ha Trang, Agneta Nordenskjöld, Sabine Uhrig

Am J Hum Genet· March 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis