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Shuming Tang et al.
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Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
Panagiotis Baliakas et al.
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Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up
Blanche P. Alter et al.
HAEMATOLOGICA (2018)
Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up
Blanche P. Alter et al.
HAEMATOLOGICA (2018)
Structure of Telomerase with Telomeric DNA
Jiansen Jiang et al.
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Thi Hoang Duong Nguyen et al.
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Jing Huang et al.
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Differential requirements for H/ACA ribonucleoprotein components in cell proliferation and response to DNA damage
Ping Lin et al.
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Robert L. Dilley et al.
TRENDS IN CANCER (2015)
Telomeropathies: An emerging spectrum disorder
Brody Holohan et al.
JOURNAL OF CELL BIOLOGY (2014)
RNA-guided isomerization of uridine to pseudouridine-pseudouridylation
Yi-Tao Yu et al.
RNA BIOLOGY (2014)
(DP2)-P-2: database of disordered protein predictions
Matt E. Oates et al.
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Cristian Bellodi et al.
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Neal S. Young
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Fiji: an open-source platform for biological-image analysis
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Bon-Kyung Koo et al.
JOURNAL OF MOLECULAR BIOLOGY (2011)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
Specificity and Stoichiometry of Subunit Interactions in the Human Telomerase Holoenzyme Assembled In Vivo
Emily D. Egan et al.
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Box H/ACA Small Ribonucleoproteins
Tamas Kiss et al.
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A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
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18S rRNA processing requires base pairings of snR30 H/ACA snoRNA to eukaryote-specific 18S sequences
Eleonore Fayet-Lebaron et al.
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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
Tom Vulliamy et al.
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Dragony Fu et al.
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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
Amanda J. Walne et al.
HUMAN MOLECULAR GENETICS (2007)
hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase
C Hoareau-Aveilla et al.
RNA (2006)
Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells
X Darzacq et al.
JOURNAL OF CELL BIOLOGY (2006)
Cotranscriptional recognition of human intronic box H/ACA snoRNAs occurs in a splicing-independent manner
P Richard et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
M Armanios et al.
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Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins
C Wang et al.
EMBO JOURNAL (2004)
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
T Vulliamy et al.
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Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs
D Fu et al.
MOLECULAR CELL (2003)
Telomere measurement by quantitative PCR
RM Cawthon
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Predicting deleterious amino acid substitutions
PC Ng et al.
GENOME RESEARCH (2001)