Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 5

Results: 8

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 272, doi. 10.1159/000477750

By:

van der Ven, Amelie T.;
Shril, Shirlee;
Ityel, Hadas;
Vivante, Asaf;
Jing Chen;
Daw-Yang Hwang;
Laricchia, Kristen M.;
Lek, Monkol;
Tasic, Velibor;
Hildebrandt, Friedhelm

Publication type:

Article

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 266, doi. 10.1159/000477189

By:

Oneda, Beatrice;
Asadollahi, Reza;
Azzarello-Burri, Silvia;
Niedrist, Dunja;
Baldinger, Rosa;
Masood, Rahim;
Schinzel, Albert;
Latal, Bea;
Jenni, Oskar G.;
Rauch, Anita

Publication type:

Article

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 261, doi. 10.1159/000477752

By:

Mehrjardi, Mohammad Yahya Vahidi;
Maroofian, Reza;
Kalantar, Seyed M.;
Jaafarinia, Mojtaba;
Chilton, John;
Dehghani, Mohammadreza

Publication type:

Article

Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 253, doi. 10.1159/000477307

By:

Hordyjewska, Ewa;
Jaruga, Anna;
Kandzierski, Grzegorz;
Tylzanowski, Przemko

Publication type:

Article

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 244, doi. 10.1159/000477598

By:

Sgardioli, Ilária C.;
de Mello Copelli, Matheus;
Monteiro, Fabíola P.;
dos Santos, Ana P.;
Mendes, Elaine Lustosa;
Vieira, Társis Paiva;
Gil-da-Silva-Lopes, Vera L.

Publication type:

Article

Genetic Testing in a Cohort of Complex Esophageal Atresia.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 236, doi. 10.1159/000477429

By:

Beauregard-Lacroix, Eliane;
Tardif, Jessica;
Lemyre, Emmanuelle;
Kibar, Zoha;
Faure, Christophe;
Campeau, Philippe M.

Publication type:

Article

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 227, doi. 10.1159/000477226

By:

Monteiro, Rejane A. C.;
de Freitas, Mariana L.;
Vianna, Gabrielle S.;
de Oliveira, Valdirene T.;
Pietra, Rafaella X.;
Ferreira, Luana C. A.;
Rocha, Patrícia P. O.;
da S. Gonçalves, Michele;
da C. César, Giovana;
de S. Lima, Joziele;
Medeiros, Paula F. V.;
Mazzeu, Juliana F.;
Jehee, Fernanda S.

Publication type:

Article

Adding Insult to Injury, Complexity to Intricacy.

Published in:

Molecular Syndromology, 2017, v. 8, n. 5, p. 225, doi. 10.1159/000477230

By:

Poot, Martin

Publication type:

Article