Publications by authors named "Barbara Utermann"

Claim this Profile
S
Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, Andrew Green, Olaf Rittinger, Barbara Utermann, Gerd Utermann

J Pediatr· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
Anne Frühmesser, Edda Haberlandt, Werner Judmaier, Albert Schinzel, Barbara Utermann, Gerd Utermann

Am J Med Genet A· September 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.
Martina Höckner, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann

Am J Med Genet A· April 2008

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pre- and postnatal findings in trisomy 17 mosaicism.
Barbara Utermann, Mariluce Riegel, Dru Leistritz, Thomas Karall, Josef Wisser

Am J Med Genet A· August 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diffusion-weighted imaging in Huntington's disease.
Klaus Seppi, Michael F H Schocke, Katherina J Mair, Regina Esterhammer, Helga Weirich-Schwaiger, Barbara Utermann

Mov Disord· July 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
Sabine Walter, Klaus Sandig, Georg K Hinkel, Beate Mitulla, Katrin Ounap, Barbara Utermann

Am J Med Genet A· August 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
Christian A Hübner, Barbara Utermann, Sigrid Tinschert, Gabriele Krüger, Bernadette Ressler

Hum Mutat· May 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
J
Joubert-like syndrome unlinked to known candidate loci.
Andreas R Janecke, Thomas Müller, Ingmar Gassner, Alfons Kreczy, Eduard Schmid, Barbara Utermann, Gerd Utermann

J Pediatr· February 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.
Judith Loeffler, Elisabeth Soelder, Martin Erdel, Barbara Utermann, Andreas Janecke, Gerd Utermann

Am J Med Genet A· January 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
Bruno Moulard, Pierre Genton, Djamel Grid, Marc Jeanpierre, Réda Ouazzani, Barbara Utermann

Hum Genet· September 2002

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Andreas R Janecke, Almut Hirst-Stadlmann, Barbara Günther, Barbara Utermann, Thomas Müller, Gerd Utermann

Hum Genet· August 2002

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis