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

Results: 8

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

Contents Vol. 1, 2010.

Published in:: Molecular Syndromology, 2010, v. 1, n. 6, p. I, doi. 10.1159/000332054
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