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  1. 1.   Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants
  2. Ungar, Rachel A; Giri, Neelam; Pao, Maryland; Khincha, Payal P; Zhou, Weiyin; Alter, Blanche P; Savage, Sharon A
  3. American Journal of Medical Genetics. Part A. 2018, Jun; 176(6): 1432-1437.
  1. 2.   Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
  2. Ratnasamy, Vithiya; Navaneethakrishnan, Suganthan; Sirisena, Nirmala Dushyanthi; Grüning, Nana-Maria; Brandau, Oliver; Thirunavukarasu, Kumanan; Dagnall, Casey; McReynolds, Lisa J; Savage, Sharon A; Dissanayake, Vajira H W
  3. BMC Medical Genetics. 2018, May 25; 19(1): 85.
  1. 3.   Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives
  2. Khincha, Payal P; Dagnall, Casey; Hicks, Belynda; Jones, Kristine; Aviv, Abraham; Kimura, Masayuki; Katki, Hormuzd; Aubert, Geraldine; Giri, Neelam; Alter, Blanche P; Savage, Sharon A; Gadalla, Shahinaz M
  3. International Journal of Molecular Sciences. 2017, Aug 13; 18(8): pii: E1765.
  1. 4.   The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain
  2. Yingling, Y. G.; Shapiro, B. A.
  3. Journal of Biomolecular Structure & Dynamics. 2007, Feb; 24(4): 303-319.
  1. 5.   Dynamic behavior of the telomerase RNA hairpin structure and its relationship to dyskeratosis congenita
  2. Yingling, Y. G.; Shapiro, B. A.
  3. Journal of Molecular Biology. 2005, APR 22; 348(1): 27-42.
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