Works matching IS 16618769 AND DT 2012 AND VI 3 AND IP 2

Results: 8

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 94, doi. 10.1159/000341251

By:

Riess, A.;
Dufke, A.;
Riess, O.;
Beck-Woedl, S.;
Fode, B.;
Skladny, H.;
Klaes, R.;
Tzschach, A.

Publication type:

Article

Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 89, doi. 10.1159/000339896

By:

Kotecha, U. H.;
Movva, S.;
Puri, R. D.;
Verma, I. C.

Publication type:

Article

Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 82, doi. 10.1159/000339639

By:

Esparza-Garrido, R. Ruiz;
Velázquez-Wong, A. C.;
Araujo-Solís, M. A.;
Huicochea-Montiel, J. C.;
Velázquez-Flores, M. A.;
Salamanca-Gómez, F.;
Arenas-Aranda, D. J.

Publication type:

Article

Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 76, doi. 10.1159/000339668

By:

Bartsch, O.;
Kirmes, I.;
Thiede, A.;
Lechno, S.;
Gocan, H.;
Florian, I. S.;
Haaf, T.;
Zechner, U.;
Sabova, L.;
Horn, F.

Publication type:

Article

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 68, doi. 10.1159/000341252

By:

Kleffmann, W.;
Zink, A. M.;
Lee, J. A.;
Senderek, J.;
Mangold, E.;
Moog, U.;
Rappold, G. A.;
Wohlleber, E.;
Engels, H.

Publication type:

Article

Applying Genomic Analysis to Newborn Screening.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 59, doi. 10.1159/000341253

By:

Solomon, B. D.;
Pineda-Alvarez, D. E.;
Bear, K. A.;
Mullikin, J. C.;
Evans, J. P.

Publication type:

Article

Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 47, doi. 10.1159/000339441

By:

Hoffjan, S.

Publication type:

Article

Beware of Hemizygous Deletions That May Unmask Deleterious Variants.

Published in:

Molecular Syndromology, 2012, v. 3, n. 2, p. 45, doi. 10.1159/000339564

By:

Poot, Martin

Publication type:

Article