Publications by authors named "Barbara Zoll"

Claim this Profile
A
A look into the future? Patients' and health care staff's perception and evaluation of genetic information and the right not to know.
Christian Lenk, Gunnar Duttge, Laura Flatau, Debora Frommeld, Wolfgang Poser, Barbara Zoll

Am J Med Genet B Neuropsychiatr Genet· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic information and a person's right not to know: A closer look at variations in hypothetical informational preferences in a German sample.
Laura Flatau, Markus Reitt, Gunnar Duttge, Christian Lenk, Barbara Zoll

PLoS One· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Barbara Zoll

Genet Med· January 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.
Mateja Smogavec, Jana Zschüntzsch, Wolfram Kress, Julia Mohr, Peter Hellen, Barbara Zoll

Neurol Genet· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
Matthias Rath, Stefanie Spiegler, Neetika Nath, Konrad Schwefel, Nataliya Di Donato, Barbara Zoll

Mol Genet Genomic Med· January 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Barbara Zoll

Hum Mutat· September 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.
Jan Menke, Silke Pauli, Matthias Sigler, Ingrid Kühnle, Moneef Shoukier, Barbara Zoll

J Clin Oncol· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Tectonic gene mutations in patients with Joubert syndrome.
Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll

Eur J Hum Genet· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
Eva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, Lorenz Winter, Barbara Zoll

Mol Cytogenet· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter

Hum Mol Genet· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, Winnie Schröder, Barbara Zoll

Mol Genet Genomic Med· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.
Eva Maria Christina Schwaibold, Iris Bartels, Helmut Küster, Michael Lorenz, Peter Burfeind, Barbara Zoll

Mol Cytogenet· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Eva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, Elke Hobbiebrunken, Bernd Wilken

Am J Med Genet A· October 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.
Silke Pauli, Thomas Schmidt, Rudolf Funke, Barbara Zoll, Peter Burfeind

Eur J Med Genet· November 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Moneef Shoukier, Julia Schröder, Barbara Zoll, Peter Burfeind, Clemens Freiberg

Am J Med Genet A· February 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
Moneef Shoukier, Julia Wickert, Julia Schröder, Iris Bartels, Bernd Auber, Barbara Zoll

Am J Med Genet A· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.
Knut Brockmann, Heiko Backes, Bernd Auber, Thomas Kriebel, Franziska Stellmer, Barbara Zoll

Am J Med Genet A· December 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.
Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind, Detlef Boehm

Mol Cytogenet· March 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.
Iris Bartels, Heike Starke, Loukas Argyriou, Simone M Sauter, Barbara Zoll

Eur J Med Genet· May 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.
S M Sauter, Detlef Böhm, Iris Bartels, Peter Burfeind, Franco A Laccone, Barbara Zoll

Am J Med Genet A· May 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents.
Benedikt J Folz, Barbara Zoll, Heiko Alfke, André Toussaint, Rolf F Maier

Eur Arch Otorhinolaryngol· January 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor.
Cornelia E Wolf, Hannelore Haubelt, Hans Ulrich Pauer, Bernd Hinney, Claudette Krome-Cesar, Barbara Zoll

Pathophysiol Haemost Thromb· March 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Barbara Zoll

Eur J Hum Genet· November 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.
Barbara Zoll, Lars Petersen, Katrin Lange, Peter Gabriel, Christiane Kiese-Himmel

Hum Mutat· January 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis