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Journal Article
BLOOD, ISSN 0006-4971, 07/2019, Volume 134, Issue 3, pp. 277 - 290
Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly... 
GENE | NEUTROPENIA | BONE-MARROW | GUIDELINES | SBDS | CLASSIFICATION | CHROMOSOME-20 | HEMATOLOGY | MARROW FAILURE | PROTEIN-SYNTHESIS | 60S RIBOSOMAL-SUBUNIT
Journal Article
EMBO molecular medicine, 07/2019, Volume 11, Issue 7, p. e10201
PARN, poly(A)-specific ribonuclease, regulates the turnover of mRNAs and the maturation and stabilization of the hTR RNA component of telomerase. Biallelic... 
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 6, pp. 1619 - 1626.e5
Journal Article
Malaria Journal, ISSN 1475-2875, 04/2016, Volume 15, Issue 1, pp. 248 - 248
Journal Article
Medecine/Sciences, ISSN 0767-0974, 2013, Volume 29, Issue 12, pp. 1138 - 1144
Journal Article
Medecine Sciences, ISSN 0767-0974, 12/2013, Volume 29, Issue 12, pp. 1138 - 1138
Regulator of telomere length helicase 1 (RTEL1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode... 
Journal Article
Blood advances, ISSN 2473-9529, 11/2016, Volume 1, Issue 1, pp. 36 - 46
Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from... 
Life Sciences | Human health and pathology | Genetics | Human genetics
Journal Article
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