Works matching IS 16618769 AND DT 2014 AND VI 5 AND IP 6

Results: 10

Contents Vol. 5, 2014.

Published in:: Molecular Syndromology, 2014, v. 5, n. 6, p. I, doi. 10.1159/000370090
Publication type:: Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2014, v. 5, n. 6, p. X, doi. 10.1159/000358363
Publication type:: Article

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 293, doi. 10.1159/000366252

By:

Huckert, Mathilde;
Mecili, Helen;
Laugel-Haushalter, Virginie;
Stoetzel, Corinne;
Muller, Jean;
Flori, Elisabeth;
Laugel, Vincent;
Manière, Marie-Cécile;
Dollfus, Hélène;
Bloch-Zupan, Agnès

Publication type:

Article

All Humans, Great or Small, Short or Tall.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 257, doi. 10.1159/000368860

By:

Poot, Martin

Publication type:

Article

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 268, doi. 10.1159/000369108

By:

Moldenhauer Minillo, Renata;
Sobreira, Nara;
de Fatima de Faria Soares, Maria;
Jurgens, Julie;
Ling, Hua;
Hetrick, Kurt N.;
Doheny, Kimberly F.;
Valle, David;
Brunoni, Decio;
Alvarez Perez, Ana B.

Publication type:

Article

A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 276, doi. 10.1159/000368865

By:

Miller, Kerry A.;
Tan, Tiong Y.;
Welfare, Megan F.;
White, Susan M.;
Stark, Zornitza;
Savarirayan, Ravi;
Burgess, Trent;
Heggie, Andrew A.;
Caruana, Georgina;
Bertram, John F.;
Bateman, John F.;
Farlie, Peter G.

Publication type:

Article

Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 287, doi. 10.1159/000369421

By:

Tekendo-Ngongang, Cedrik;
Dahoun, Sophie;
Nguefack, Seraphin;
Gimelli, Stefania;
Sloan-Béna, Frédérique;
Wonkam, Ambroise

Publication type:

Article

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 259, doi. 10.1159/000365898

By:

Amyere, Mustapha;
Dompmartin, Anne;
Wouters, Vinciane;
Enjolras, Odile;
Kaitila, Ilkka;
Docquier, Pierre-Louis;
Godfraind, Catherine;
Mulliken, John Butler;
Boon, Laurence Myriam;
Vikkula, Miikka

Publication type:

Article

A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 304, doi. 10.1159/000369267

By:

Abdalla, Ebtesam M.;
Has, Cristina

Publication type:

Article

Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings.

Published in:

Molecular Syndromology, 2014, v. 5, n. 6, p. 299, doi. 10.1159/000366074

By:

Chen, Bee Chin;
Mohd Rawi, Rowani;
Meinsma, Rutger;
Meijer, Judith;
Hennekam, Raoul C.M.;
van Kuilenburg, André B.P.

Publication type:

Article