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

Results: 10

Front & Back Matter.

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

What a Difference an ERCC1 or ERCC4 (XPF) Mutation Makes!

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 199, doi. 10.1159/000358893

By:

Poot, M.

Publication type:

Article

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 201, doi. 10.1159/000365770

By:

Hüning, Irina;
Gillessen-Kaesbach, Gabriele

Publication type:

Article

Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 212, doi. 10.1159/000362898

By:

Louati, Rim;
Abdelmoula, N. Bouayed;
Trabelsi, Imen;
Abid, Dorra;
Lissewski, Christina;
Kharrat, Najla;
Kamoun, Samir;
Zenker, Martin;
Rebai, Tarek

Publication type:

Article

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 218, doi. 10.1159/000365057

By:

Daly, Sarah B.;
Shah, Hitesh;
O'Sullivan, James;
Anderson, Beverley;
Bhaskar, Sanjeev;
Williams, Simon;
Al-Sheqaih, Nada;
Mueed Bidchol, Abdul;
Banka, Siddharth;
Newman, William G.;
Girisha, Katta M.

Publication type:

Article

A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 229, doi. 10.1159/000362891

By:

Poot, Martin

Publication type:

Article

A Novel Fibrillin 1 Gene Mutation Leading to Marfan Syndrome with Minimal Cardiac Features.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 236, doi. 10.1159/000358846

By:

Martínez-Quintana, E.;
Rodríguez-González, F.;
Garay-Sánchez, P.;
Tugores, A.

Publication type:

Article

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 241, doi. 10.1159/000365769

By:

Castori, Marco;
Bottillo, Irene;
D'Angelantonio, Daniela;
Morlino, Silvia;
De Bernardo, Carmelilia;
Scassellati Sforzolini, Giovanna;
Silvestri, Evelina;
Grammatico, Paola

Publication type:

Article

A Novel (Paternally Inherited) Duplication 13q31.3q32.3 in a 12-Year-Old Patient with Facial Dysmorphism and Developmental Delay.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 245, doi. 10.1159/000358538

By:

Atack, E.;
Fairtlough, H.;
Smith, K.;
Balasubramanian, M.

Publication type:

Article

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Published in:

Molecular Syndromology, 2014, v. 5, n. 5, p. 251, doi. 10.1159/000365768

By:

Danda, Sumita;
van Rahden, Vanessa A.;
John, Deepa;
Paul, Padma;
Raju, Renu;
Koshy, Santosh;
Kutsche, Kerstin

Publication type:

Article