Works matching IS 16618769 AND DT 2016 AND VI 6 AND IP 6

Results: 10

Contents Vol. 6, 2015.

Published in:: Molecular Syndromology, 2016, v. 6, n. 6, p. I, doi. 10.1159/000444613
Publication type:: Article

Front & Back Matter.

Published in:: Molecular Syndromology, 2016, v. 6, n. 6, p. X, doi. 10.1159/000444897
Publication type:: Article

From Telomere Crisis via Dicentric Chromosomes to Kataegis and Chromothripsis.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 259, doi. 10.1159/000443805

By:

Poot, Martin

Publication type:

Article

Involvement of Fibroblast Growth Factors and Their Receptors in Epididymo-Testicular Descent and Maldescent.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 261, doi. 10.1159/000444033

By:

Hadziselimovic, Faruk

Publication type:

Article

Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 268, doi. 10.1159/000443942

By:

Li, Lin;
Huang, Linhuan;
Luo, Yanmin;
Huang, Xuan;
Lin, Shaobin;
Fang, Qun

Publication type:

Article

Genomic Alterations Are Enhanced in Placentas from Pregnancies with Fetal Growth Restriction and Preeclampsia: Preliminary Results.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 276, doi. 10.1159/000444064

By:

Biron-Shental, Tal;
Sharony, Reuven;
Shtorch-Asor, Atalia;
Keiser, Meirav;
Sadeh-Mestechkin, Dana;
Laish, Ido;
Amiel, Aliza

Publication type:

Article

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 281, doi. 10.1159/000443867

By:

Le Gloan, Laurianne;
Hauet, Quentin;
David, Albert;
Hanna, Nadine;
Arfeuille, Chloé;
Arnaud, Pauline;
Boileau, Catherine;
Romefort, Bénédicte;
Benbrik, Nadir;
Gournay, Véronique;
Joram, Nicolas;
Baron, Olivier;
Isidor, Bertrand

Publication type:

Article

Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 287, doi. 10.1159/000443708

By:

Sivasankaran, Aswini;
Srikanth, Ambika;
Kulshreshtha, Pooja S.;
Anuradha, Deenadayalu;
Kadandale, Jayarama S.;
Samuel, Chandra R.

Publication type:

Article

Partial 1q Duplications and Associated Phenotype.

Published in:

Molecular Syndromology, 2016, v. 6, n. 6, p. 297, doi. 10.1159/000443599

By:

Morris, Marcos L.M.;
Baroneza, José E.;
Teixeira, Patricia;
Medina, Cristina T.N.;
Cordoba, Mara S.;
Versiani, Beatriz R.;
Roese, Liege L.;
Freitas, Erika L.;
Fonseca, Ana C.S.;
dos Santos, Maria C.G.;
Pic-Taylor, Aline;
Rosenberg, Carla;
Oliveira, Silviene F.;
Ferrari, Iris;
Mazzeu, Juliana F.

Publication type:

Article

RE(ACT) Congress 9-12 March 2016, Barcelona. 3rd International Congress on Research of Rare and Orphan Diseases. 9th to 12th March 2016. Crowne Plaza Barcelona - Fira Center, Barcelona, Spain: Abstracts.

Published in:: Molecular Syndromology, 2016, v. 6, n. 6, p. 304, doi. 10.1159/000444288
Publication type:: Article