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Structural basis of Staphylococcus epidermidis biofilm formation: mechanisms and molecular interactions
Henning BÃ ⁄ ttner, Dietrich Mack, Holger Rohde · Frontiers in Cellular and Infection Microbiology
Open access |
17 Feb 2015 |
255 |
| 2 |
Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology
Open access |
27 Oct 2011 |
239 |
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Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Christian Peter Kratz et al. · British Journal of Cancer
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5 Mar 2015 |
218 |
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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel, Tobias Eisenberger, Martin Gliem et al. · Scientific Reports
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13 Mar 2018 |
207 |
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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
Carsten Bergmann · Pediatric Nephrology
Open access |
28 Feb 2014 |
185 |
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Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference
Lisa M. Guay‐Woodford et al. · The Journal of Pediatrics
Open access |
9 Jul 2014 |
184 |
| 7 |
A practical guide to validation and verification of analytical methods in the clinical laboratory
Joachim K.W. Pum · Advances in clinical chemistry
Book chapter |
2019 |
156 |
| 8 |
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
Miriam Schmidts et al. · Human Mutation
Open access |
15 Feb 2013 |
140 |
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A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
Markus Matthias Rinschen et al. · Cell Reports
Open access |
May 2018 |
113 |
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ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS
Emine Korkmaz et al. · Journal of the American Society of Nephrology
Open access |
12 May 2015 |
100 |
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Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
Isabel Ottlewski, Johannes Münch, Timo Wagner et al. · Kidney International
Open access |
15 Mar 2019 |
99 |
| 12 |
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
Tobias Eisenberger, Rima Slim, Ahmad M. Mansour et al. · Orphanet Journal of Rare Diseases
Open access |
Sep 2012 |
80 |
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An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease
Tobias Eisenberger, Christian Decker, Milan Hiersche et al. · PLoS ONE
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3 Feb 2015 |
79 |
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Reticular Pseudodrusen in Sorsby Fundus Dystrophy
Martin Gliem, Philipp L. Müller, Elisabeth Mangold et al. · Ophthalmology
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14 Jun 2015 |
73 |
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Educational paper
Carsten Bergmann · European Journal of Pediatrics
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6 Sep 2011 |
71 |
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Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
Kathrin Burgmaier et al. · The Journal of Pediatrics
Open access130 authors |
9 May 2018 |
63 |
| 17 |
Extension of the clinical and molecular phenotype of DIAPH1 ‐associated autosomal dominant hearing loss ( DFNA1 )
Christine Neuhaus, Ruth Lang‐Roth, Ulrike Zimmermann et al. · Clinical Genetics
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3 Nov 2016 |
60 |
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann et al. · Orphanet Journal of Rare Diseases
Open access |
9 Feb 2015 |
60 |
| 19 |
Rationale, design and objectives of ARegPKD, a European ARPKD registry study
Kathrin Ebner et al. · BMC Nephrology
Open access |
17 Feb 2015 |
60 |
| 20 |
Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum
Maja Sukalo et al. · Human Mutation
Open access |
6 Mar 2014 |
56 |
| 21 |
Polymorphisms in circadian genes, night work and breast cancer: Results from the GENICA study
Sylvia Rabstein, Volker Harth, Christina Justenhoven et al. · Chronobiology International
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17 Sep 2014 |
54 |
| 22 |
Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing
Jutta Busch, Valeska Frank, Nadine Bachmann et al. · Journal of Investigative Dermatology
Open access |
14 Jun 2012 |
52 |
| 23 |
Atypical serum transferrin isoform distribution in liver cirrhosis studied by HPLC, capillary electrophoresis and transferrin genotyping
Torsten Arndt, Brenda B. van der Meijden, Jos P.M. Wielders · Clinica Chimica Acta
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8 Apr 2008 |
52 |
| 24 |
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
Solaf Mohamed Elsayed, Raoul Heller, Michaela Thoenes et al. · European Journal of Human Genetics
Open access |
10 Jul 2013 |
47 |
| 25 |
Activation of the virus-induced IKK/NF-?B signalling axis is critical for the replication of human cytomegalovirus in quiescent cells
Patrizia Caposio, Anna Luganini, Gabriele Hahn et al. · Cellular Microbiology
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5 Apr 2007 |
46 |
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Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety
Veronika I. Teusch, Walter Alexander Wohlgemuth, Simone Hammer et al. · American Journal of Roentgenology
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20 Sep 2017 |
45 |
| 27 |
C21orf2is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium
Arif O. Khan, Tobias Eisenberger, Kerstin Nagel‐Wolfrum et al. · British Journal of Ophthalmology
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20 Aug 2015 |
45 |
| 28 |
Tectonic gene mutations in patients with Joubert syndrome
Peter Huppke, Eike Wegener, Helena Böhrer‐Rabel et al. · European Journal of Human Genetics
Open access |
13 Aug 2014 |
45 |
| 29 |
Inhalation but not transdermal resorption of hand sanitizer ethanol causes positive ethyl glucuronide findings in urine
Torsten Arndt, Stefanie Schröfel, Brunhilde Güssregen et al. · Forensic Science International
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18 Feb 2014 |
45 |
| 30 |
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula
Arif O. Khan, Elvir Bećirović, Christian Stephan Betz et al. · Scientific Reports
Open access |
26 Apr 2017 |
44 |
| 31 |
Determination of serum amantadine by liquid chromatography-tandem mass spectrometry
Torsten Arndt, Brunhilde Guessregen, Axel Hohl et al. · Clinica Chimica Acta
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25 May 2005 |
43 |
| 32 |
Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa
Bastian Linder, Anja Hirmer, Andreas Gal et al. · PLoS ONE
Open access |
10 Nov 2014 |
43 |
| 33 |
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies
Henry Fehrenbach, Christian Decker, Tobias Eisenberger et al. · Pediatric Nephrology
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6 Feb 2014 |
42 |
| 34 |
Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD
Ekim Z. Taşkıran, Emine Korkmaz, Şafak Güçer et al. · Journal of the American Society of Nephrology
Open access |
7 Mar 2014 |
41 |
| 35 |
Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8
Thomas Mitchell Schmidt, Tatjana Bierhals, Fanny Kortüm et al. · Cytogenetic and Genome Research
Open access |
11 Oct 2013 |
41 |
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Bactericidal effect of propolis in vitro against agents causing upper respiratory tract infections.
Josef Focht, Søren Hørning Hansen, Jakob Vennike Nielsen et al. · PubMed
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Aug 1993 |
38 |
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Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome
Arif O. Khan, Inam N. Bifari, Hanno J. Bolz · Ophthalmology
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10 Apr 2015 |
37 |
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Highly efficient on-DNA amide couplings promoted by micelle forming surfactants for the synthesis of DNA encoded libraries
James H. Hunter, Matthew J. Anderson, Isaline F. S. F. Castan et al. · Chemical Science
Open access |
2021 |
35 |
| 39 |
The ophthalmic phenotype ofIFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
Inam N. Bifari, Sahar M. Elkhamary, Hanno J. Bolz et al. · British Journal of Ophthalmology
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10 Sep 2015 |
35 |
| 40 |
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
on behalf of the European Society of Human Genetics (ESHG) and the American Soci et al. · European Journal of Human Genetics
Open access |
Apr 2015 |
35 |
| 41 |
False-positive ethyl glucuronide immunoassay screening caused by a propyl alcohol-based hand sanitizer
Torsten Arndt, Joachim Grüner, Stefanie Schröfel et al. · Forensic Science International
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Nov 2012 |
33 |
| 42 |
The macrophage-TCRαβ is a cholesterol-responsive combinatorial immune receptor and implicated in atherosclerosis
Tina Fuchs, Kerstin Püellmann, Alexander Emmert et al. · Biochemical and Biophysical Research Communications
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20 Nov 2014 |
32 |
| 43 |
Analysis of cycle threshold values in SARS-CoV-2-PCR in a long-term study
Carolin Ade, Joachim K.W. Pum, Iris Abele et al. · Journal of Clinical Virology
Open access |
11 Mar 2021 |
31 |
| 44 |
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation
Arif O. Khan, Saba Al Rashaed, Christine Neuhaus et al. · British Journal of Ophthalmology
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10 Jun 2015 |
30 |
| 45 |
A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from RecessiveKCNJ13Mutations
Arif O. Khan, Carsten Bergmann, Christine Neuhaus et al. · Ophthalmic Genetics
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5 Dec 2014 |
30 |
| 46 |
Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing
Cordula Knopp, Sabine Rudnik‐Schöneborn, Thomas Eggermann et al. · Molecular and Cellular Probes
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21 May 2015 |
29 |
| 47 |
Ethyl glucuronide identified in commercial hair tonics
Torsten Arndt, Stefanie Schröfel, Karsten Stemmerich · Forensic Science International
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14 Jun 2013 |
28 |
| 48 |
A combinatorial αβ T cell receptor expressed by macrophages in the tumor microenvironment
Tina Fuchs, Martin Hahn, Vladimir Riabov et al. · Immunobiology
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23 Oct 2015 |
27 |
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Systemic complement activation and complement gene analysis in enterohaemorrhagicEscherichia coli-associated paediatric haemolytic uraemic syndrome
Thurid Ahlenstiel-Grunow, Svenja Hachmeister, Franz Christoph Bange et al. · Nephrology Dialysis Transplantation
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4 May 2016 |
26 |
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Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay
Arif O. Khan, Saleh Al-Mesfer, Shahira Al-Turkmani et al. · British Journal of Ophthalmology
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4 Jul 2014 |
25 |