Dopa-responsive dystonia.
Segawa M.
Handb Clin Neurol. 2011;100:539-57. doi: 10.1016/B978-0-444-52014-2.00039-2.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C.
Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4.
The clinical significance of immunoglobulin A deficiency.
Latiff AH, Kerr MA.
Ann Clin Biochem. 2007 Mar;44(Pt 2):131-9. doi: 10.1258/000456307780117993.
Hypothesis: Central digit hypoplasia.
Holmes LB, Nasri HZ.
Am J Med Genet A. 2022 Jun;188(6):1746-1751. doi: 10.1002/ajmg.a.62697. Epub 2022 Mar 2.
m6A modulates haematopoietic stem and progenitor cell specification.
Zhang C, Chen Y, Sun B, Wang L, Yang Y, Ma D, Lv J, Heng J, Ding Y, Xue Y, Lu X, Xiao W, Yang YG, Liu F.
Nature. 2017 Sep 14;549(7671):273-276. doi: 10.1038/nature23883. Epub 2017 Sep 6.
Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.
Mac TT, Castinetti F, Bar C, Julia S, Pasquet M, Romanet P, Saveanu A, Mougel G, Fauquier T, Jullien N, Barlier A, Reynaud R, Brue T.
J Neuroendocrinol. 2023 Jun;35(6):e13287. doi: 10.1111/jne.13287. Epub 2023 Jun 15.
The r-X1 deletion induces terminal deficiencies in the maize B chromosome.
Huang YH, Lin TC, Chiou WY, Cheng YM.
Chromosome Res. 2021 Dec;29(3-4):351-360. doi: 10.1007/s10577-021-09671-4. Epub 2021 Sep 3.
Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
Carchon H, Van Schaftingen E, Matthijs G, Jaeken J.
Biochim Biophys Acta. 1999 Oct 8;1455(2-3):155-65. doi: 10.1016/s0925-4439(99)00073-3.
Terminal complement component deficiencies and rheumatic disease: development of a rheumatic syndrome and anticomplementary activity in a patient with complete C6 deficiency.
Wisnieski JJ, Naff GB, Pensky J, Sorin SB.
Ann Rheum Dis. 1985 Oct;44(10):716-22. doi: 10.1136/ard.44.10.716.
Structural basis of Q-dependent antitermination.
Yin Z, Kaelber JT, Ebright RH.
Proc Natl Acad Sci U S A. 2019 Sep 10;116(37):18384-18390. doi: 10.1073/pnas.1909801116. Epub 2019 Aug 27.
