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Our Dermatology Online, ISSN 2081-9390, 07/2018, Volume 9, Issue 3, pp. 331 - 332
Journal Article
Japanese Journal of Cancer and Chemotherapy, ISSN 0385-0684, 03/2019, Volume 46, Issue 3, pp. 515 - 517
Journal Article
European Respiratory Journal, ISSN 0903-1936, 07/2014, Volume 44, Issue 1, pp. 270 - 271
Journal Article
CLINICAL AND EXPERIMENTAL DERMATOLOGY, ISSN 0307-6938, 08/2015, Volume 40, Issue 6, pp. 697 - 699
Journal Article
The European respiratory journal, ISSN 0903-1936, 1/2017, Volume 49, Issue 1
Pulmonary arteriovenous malformations are under-recognized in telomere biology disorders and present diagnostic and therapeutic challenges. 
Dyskeratosis congenita | pulmonary arteriovenous malformation | hepatopulmonary syndrome | telomere
Journal Article
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 06/2016, Volume 374, Issue 22, pp. 2193 - 2193
Journal Article
Molecular Cell, ISSN 1097-2765, 03/2019, Volume 73, Issue 6, pp. 1204 - 1216.e4
PARN loss-of-function mutations cause a severe form of the hereditary disease dyskeratosis congenita (DC). PARN deficiency affects the stability of non-coding... 
dyskeratosis congenita | PAPD5 | DIS3L | PARN | miRNA | 3′ end modification | cancer | non-coding RNA degradation | p53 | DIS3L2
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 08/2013, Volume 22, Issue 16, pp. 3239 - 3249
HoyeraalHreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and... 
MAINTENANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DYSKERATOSIS-CONGENITA | GENETICS & HEREDITY | PROGRESSIVE PANCYTOPENIA | PATIENT | HOMOLOGOUS RECOMBINATION | MUTATIONS | HELICASE | FAILURE | CEREBELLAR HYPOPLASIA | DNA-REPLICATION
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 395 - 402
Background von Hippel-Lindau (vHL) syndrome is a rare autosomal-dominant disorder that confers a lifelong risk for developing both benign and malignant tumours... 
INSTABILITY | TUMOR SUPPRESSION | DYSKERATOSIS-CONGENITA | DISEASE | LENGTH | GENETICS & HEREDITY | SURVEILLANCE | SMALL REGION | VHL | CANCER | TELOMERES
Journal Article
Journal of Clinical Dermatology, ISSN 1000-4963, 10/2016, Volume 45, Issue 10, pp. 713 - 716
Journal Article
Cancer Epidemiology Biomarkers and Prevention, ISSN 1055-9965, 06/2011, Volume 20, Issue 6, pp. 1238 - 1250
Journal Article
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