Works matching IS 16618769 AND DT 2015 AND VI 6 AND IP 2

Results: 11

Front & Back Matter.

Published in:: Molecular Syndromology, 2015, v. 6, n. 2, p. X, doi. 10.1159/000438735
Publication type:: Article

Gene Fusion due to Chromosome Misconnection May Seriously Affect Your Health.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 55, doi. 10.1159/000381081

By:

Poot, Martin

Publication type:

Article

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 58, doi. 10.1159/000371399

By:

Hoffjan, Sabine;
Epplen, Jörg T.;
Reis, André;
Abou Jamra, Rami

Publication type:

Article

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 63, doi. 10.1159/000371600

By:

D'Angelo, Carla S.;
Moller dos Santos, Mauren F.;
Alonso, Luis G.;
Koiffmann, Celia P.

Publication type:

Article

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 71, doi. 10.1159/000431274

By:

Verhagen, Judith M.A.;
de Leeuw, Nicole;
Papatsonis, Dimitri N.M.;
Grijseels, Els W.M.;
de Krijger, Ronald R.;
Wessels, Marja W.

Publication type:

Article

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 77, doi. 10.1159/000430970

By:

Cherkaoui Jaouad, Imane;
Laarabi, Fatima Z.;
Chafai Elalaoui, Siham;
Lyonnet, Stanislas;
Henrion-Caude, Alexandra;
Sefiani, Abdelaziz

Publication type:

Article

Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 83, doi. 10.1159/000375354

By:

Singh, Ankur;
Goswami, Mridula;
Pradhan, Gaurav;
Han, Min-Su;
Choi, Je-Yong;
Kapoor, Seema

Publication type:

Article

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 87, doi. 10.1159/000407418

By:

Hatagami Marques, Júlia;
Lopes Yamamoto, Guilherme;
de Cássia Testai, Larissa;
da Costa Pereira, Alexandre;
Kim, Chong Ae;
Passos-Bueno, Maria R.;
Romeo Bertola, Débora

Publication type:

Article

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 91, doi. 10.1159/000430429

By:

Gschwind, Markus;
Foletti, Giovanni;
Baumer, Alessandra;
Bottani, Armand;
Novy, Jan

Publication type:

Article

Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 96, doi. 10.1159/000371408

By:

Suspitsin, Evgeny N.;
Sokolenko, Anna P.;
Lyazina, Lydia V.;
Preobrazhenskaya, Elena V.;
Lepenchuk, Alla Y.;
Imyanitov, Evgeny N.

Publication type:

Article

Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

Published in:

Molecular Syndromology, 2015, v. 6, n. 2, p. 99, doi. 10.1159/000375542

By:

Masuda, Koji;
Akiyama, Kazuhiro;
Arakawa, Michiko;
Nishi, Eriko;
Kitazawa, Noritaka;
Higuchi, Tsukasa;
Katou, Yuki;
Shirahige, Katsuhiko;
Izumi, Kosuke

Publication type:

Article