Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 6

Results: 8

Contents Vol. 1, 2010.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. I, doi. 10.1159/000332054
Publication type:
Article
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 273, doi. 10.1159/000331268
By:
- Schaefer, E.;
- Zaloszyc, A.;
- Lauer, J.;
- Durand, M.;
- Stutzmann, F.;
- Perdomo-Trujillo, Y.;
- Redin, C.;
- Bennouna Greene, V.;
- Toutain, A.;
- Perrin, L.;
- Gérard, M.;
- Caillard, S.;
- Bei, X.;
- Lewis, R.A.;
- Christmann, D.;
- Letsch, J.;
- Kribs, M.;
- Mutter, C.;
- Muller, J.;
- Stoetzel, C.
Publication type:
Article
RASopathies: Clinical Diagnosis in the First Year of Life.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 282, doi. 10.1159/000331266
By:
- Digilio, M.C.;
- Lepri, F.;
- Baban, A.;
- Dentici, M.L.;
- Versacci, P.;
- Capolino, R.;
- Ferese, R.;
- De Luca, A.;
- Tartaglia, M.;
- Marino, B.;
- Dallapiccola, B.
Publication type:
Article
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 290, doi. 10.1159/000330755
By:
- Van der Aa, N.;
- Van den Bergh, M.;
- Ponomarenko, N.;
- Verstraete, L.;
- Ceulemans, B.;
- Storm, K.
Publication type:
Article
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 294, doi. 10.1159/000330111
By:
- Berland, S.;
- Alme, K.;
- Brendehaug, A.;
- Houge, G.;
- Hovland, R.
Publication type:
Article
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 301, doi. 10.1159/000331338
By:
- Rudnik-Schöneborn, S.;
- Zerres, K.;
- Graul-Neumann, L.;
- Wiegand, S.;
- Mellerowicz, H.;
- Hehr, U.
Publication type:
Article
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 307, doi. 10.1159/000330109
By:
- Muru, K.;
- Kalev, I.;
- Teek, R.;
- Sõnajalg, M.;
- Kuuse, K.;
- Reimand, T.;
- Õunap, K.
Publication type:
Article
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency.
Published in:
Molecular Syndromology, 2010, v. 1, n. 6, p. 311, doi. 10.1159/000331323
By:
- Joost, K.;
- Tammur, P.;
- Teek, R.;
- Žilina, O.;
- Peters, M.;
- Kreile, M.;
- Lace, B.;
- Žordania, R.;
- Talvik, I.;
- Õunap, K.
Publication type:
Article