Works matching IS 16618769 AND DT 2013 AND VI 4 AND IP 4

Results: 9

Front & Back Matter.

Published in:: Molecular Syndromology, 2013, v. 4, n. 4, p. X, doi. 10.1159/000351585
Publication type:: Article

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 157, doi. 10.1159/000348675

By:

Brouillard, P.;
Boon, L.M.;
Revencu, N.;
Berg, J.;
Dompmartin, A.;
Dubois, J.;
Garzon, M.;
Holden, S.;
Kangesu, L.;
Labrèze, C.;
Lynch, S.A.;
McKeown, C.;
Meskauskas, R.;
Quere, I.;
Syed, S.;
Vabres, P.;
Wassef, M.;
Mulliken, J.B.;
Vikkula, M.

Publication type:

Article

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 165, doi. 10.1159/000350042

By:

Riant, F.;
Bergametti, F.;
Fournier, H.-D.;
Chapon, F.;
Michalak-Provost, S.;
Cecillon, M.;
Lejeune, P.;
Hosseini, H.;
Choe, C.;
Orth, M.;
Bernreuther, C.;
Boulday, G.;
Denier, C.;
Labauge, P.;
Tournier-Lasserve, E.

Publication type:

Article

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 173, doi. 10.1159/000349919

By:

Revencu, N.;
Boon, L.M.;
Dompmartin, A.;
Rieu, P.;
Busch, W.L.;
Dubois, J.;
Forzano, F.;
van Hagen, J.M.;
Halbach, S.;
Kuechler, A.;
Lachmeijer, A.M.A.;
Lähde, J.;
Russell, L.;
Simola, K.O.J.;
Mulliken, J.B.;
Vikkula, M.

Publication type:

Article

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 179, doi. 10.1159/000348327

By:

Soblet, J.;
Limaye, N.;
Uebelhoer, M.;
Boon, L.M.;
Vikkula, M.

Publication type:

Article

Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 184, doi. 10.1159/000350208

By:

Govani, F.S.;
Giess, A.;
Mollet, I.G.;
Begbie, M.E.;
Jones, M.D.;
Game, L.;
Shovlin, C.L.

Publication type:

Article

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 197, doi. 10.1159/000350040

By:

Prontera, P.;
Bartocci, A.;
Ottaviani, V.;
Isidori, I.;
Rogaia, D.;
Ardisia, C.;
Guercini, G.;
Mencarelli, A.;
Donti, E.

Publication type:

Article

Mucopolysaccharidosis Type II and the G374sp Mutation.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 203, doi. 10.1159/000346842

By:

Martínez-Quintana, E.;
Rodríguez-González, F.

Publication type:

Article

Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

Published in:

Molecular Syndromology, 2013, v. 4, n. 4, p. 207, doi. 10.1159/000347231

By:

Vozzi, D.;
Licastro, D.;
Martelossi, S.;
Athanasakis, E.;
Gasparini, P.;
Fabretto, A.

Publication type:

Article