Works matching IS 16618769 AND DT 2013 AND VI 4 AND IP 6

Results: 11

Contents Vol. 4, 2013.

Published in:: Molecular Syndromology, 2013, v. 4, n. 6, p. I, doi. 10.1159/000347016
Publication type:: Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2013, v. 4, n. 6, p. X, doi. 10.1159/000355399
Publication type:: Article

Late Breaking Chromosomes.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 255, doi. 10.1159/000354281

By:

Poot, M.

Publication type:

Article

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial Lymphedema.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 257, doi. 10.1159/000354097

By:

Mendola, A.;
Schlögel, M.J.;
Ghalamkarpour, A.;
Irrthum, A.;
Nguyen, H.L.;
Fastré, E.;
Bygum, A.;
van der Vleuten, C.;
Fagerberg, C.;
Baselga, E.;
Quere, I.;
Mulliken, J.B.;
Boon, L.M.;
Brouillard, P.;
Vikkula, M.

Publication type:

Article

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 267, doi. 10.1159/000353878

By:

Démurger, F.;
Pasquier, L.;
Dubourg, C.;
Dupé, V.;
Gicquel, I.;
Evain, C.;
Ratié, L.;
Jaillard, S.;
Beri, M.;
Leheup, B.;
Lespinasse, J.;
Martin-Coignard, D.;
Mercier, S.;
Quelin, C.;
Loget, P.;
Marcorelles, P.;
Laquerrière, A.;
Bendavid, C.;
Odent, S.;
David, V.

Publication type:

Article

FTO and INSIG2 Genotyping Combined with Metabolic and Anthropometric Phenotyping of Morbidly Obese Patients.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 273, doi. 10.1159/000353563

By:

Burgdörfer, E.;
Korenkov, M.;
Jonas, D.;
Weise, D.;
Haaf, T.;
Zechner, U.;
Bartsch, O.

Publication type:

Article

Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 280, doi. 10.1159/000354038

By:

Lowry, R.B.;
Chernos, J.E.;
Connelly, M.S.;
Wyse, J.P.H.

Publication type:

Article

Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 285, doi. 10.1159/000353510

By:

Martínez-Jacobo, L.;
Córdova-Fletes, C.;
Ortiz-López, R.;
Rivas, F.;
Saucedo-Carrasco, C.;
Rojas-Martínez, A.

Publication type:

Article

Cognitive Deficit, Learning Difficulties, Severe Behavioral Abnormalities and Healed Cleft Lip in a Patient with a 1.2-Mb Distal Microduplication at 22q11.2.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 292, doi. 10.1159/000354095

By:

Ribeiro-Bicudo, L.A.;
de Campos Legnaro, C.;
Gamba, B.F.;
Candido Sandri, R.M.;
Richieri-Costa, A.

Publication type:

Article

Complex Phenotype Associated with 17q21.31 Microdeletion.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 297, doi. 10.1159/000354120

By:

Dornelles-Wawruk, H.;
Pic-Taylor, A.;
Rosenberg, C.;
Krepischi, A.C.V.;
Safatle, H.P.N.;
Ferrari, I.;
Mazzeu, J.F.

Publication type:

Article

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

Published in:

Molecular Syndromology, 2013, v. 4, n. 6, p. 302, doi. 10.1159/000353727

By:

Patat, O.;
van Ravenswaaij-Arts, C.M.A.;
Tantau, J.;
Corsten-Janssen, N.;
van Tintelen, J.P.;
Dijkhuizen, T.;
Kaplan, J.;
Chassaing, N.

Publication type:

Article