Kornelia Neveling


Ontology type: schema:Person     


Person Info

NAME

Kornelia

SURNAME

Neveling

Publications in SciGraph latest 50 shown

  • 2018-12 Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation in SCIENTIFIC REPORTS
  • 2016-02 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity in NATURE GENETICS
  • 2015-02 Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015 Fanconi Anemia in ENCYCLOPEDIA OF CANCER
  • 2014-06 Einführung in die Grundlagen der Hochdurchsatzsequenzierung in MEDIZINISCHE GENETIK
  • 2013-12 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-11 PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome in PEDIATRIC RHEUMATOLOGY
  • 2013-11 OR11-002 - Mutations in MVK cause non-syndromic RP in PEDIATRIC RHEUMATOLOGY
  • 2012-06 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome in NATURE GENETICS
  • 2012-03 Exom-Sequenzierung zur Identifizierung von Krankheitsgenen in MEDIZINISCHE GENETIK
  • 2012 Identification and Analysis of Inherited Retinal Disease Genes in RETINAL DEGENERATION
  • 2011-12 Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.) in AMB EXPRESS
  • 2011-04 Exploring the link between MORF4L1 and risk of breast cancer in BREAST CANCER RESEARCH
  • 2011 Fanconi Anemia in ENCYCLOPEDIA OF CANCER
  • 2010-12 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents in MOLECULAR CANCER
  • 2010-05 Mutation of the RAD51C gene in a Fanconi anemia–like disorder in NATURE GENETICS
  • 2010-05 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene in NATURE GENETICS
  • 2009 Fanconi Anemia in ENCYCLOPEDIA OF CANCER
  • 2007-10 Genetic instability syndromes with progeroid features in ZEITSCHRIFT FÜR GERONTOLOGIE UND GERIATRIE
  • 2007-06 FANCI is a second monoubiquitinated member of the Fanconi anemia pathway in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2007-02 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer in NATURE GENETICS
  • 2006-04 Exclusion/confirmation of Ataxia-telangiectasia via cell-cycle testing in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-11 Addendum: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia in NATURE GENETICS
  • 2005-09 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia in NATURE GENETICS
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