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Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c. 109C>T (p. R37X).
Published in:
Clinical Genetics, 2015, v. 87, n. 5, p. 461, doi. 10.1111/cge.12420
By:
- Basehore, M.J.;
- Michaelson‐Cohen, R.;
- Levy‐Lahad, E.;
- Sismani, C.;
- Bird, L.M.;
- Friez, M.J.;
- Walsh, T.;
- Abidi, F.;
- Holloway, L.;
- Skinner, C.;
- McGee, S.;
- Alexandrou, A.;
- Syrrou, M.;
- Patsalis, P.C.;
- Raymond, G.;
- Wang, T.;
- Schwartz, C.E.;
- King, M.‐C.;
- Stevenson, R.E.
Publication type:
Article
Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.
Published in:
Clinical Genetics, 1999, v. 56, n. 6, p. 441, doi. 10.1034/j.1399-0004.1999.560606.x
By:
- Tsezou, A;
- Hadjiathanasiou, Ch;
- Gourgiotis, D;
- Galla, A;
- Kavazarakis, Em;
- Pasparaki, A;
- Kapsetaki, M;
- Sismani, C;
- Theodoridis, Ch;
- Patsalis, Pc;
- Moschonas, N;
- Kitsiou, S
Publication type:
Article