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