Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia (English)
- New search for: Hordyjewska, Ewa
- New search for: Jaruga, Anna
- New search for: Kandzierski, Grzegorz
- New search for: Tylzanowski, Przemko
- New search for: Hordyjewska, Ewa
- New search for: Jaruga, Anna
- New search for: Kandzierski, Grzegorz
- New search for: Tylzanowski, Przemko
In:
Molecular Syndromology
;
8
, 5
;
253-260
;
2017
- Article (Journal) / Electronic Resource
-
Title:Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia
-
Contributors:Hordyjewska, Ewa ( author ) / Jaruga, Anna ( author ) / Kandzierski, Grzegorz ( author ) / Tylzanowski, Przemko ( author )
-
Published in:Molecular Syndromology ; 8, 5 ; 253-260
-
Publisher:
- New search for: S. Karger AG
-
Place of publication:Basel, Switzerland
-
Publication date:2017-08-01
-
Size:8 pages
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Keywords:
-
Source:
Table of contents – Volume 8, Issue 5
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 225
-
Adding Insult to Injury, Complexity to IntricacyPoot, Martin et al. | 2017
- 227
-
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic TestMonteiro, 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 et al. | 2017
- 236
-
Genetic Testing in a Cohort of Complex Esophageal AtresiaBeauregard-Lacroix, Eliane / Tardif, Jessica / Lemyre, Emmanuelle / Kibar, Zoha / Faure, Christophe / Campeau, Philippe M. et al. | 2017
- 244
-
Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four CasesSgardioli, Ilária C. / de Mello Copelli, Matheus / Monteiro, Fabíola P. / dos Santos, Ana P. / Lustosa Mendes, Elaine / Paiva Vieira, Társis / Gil-da-Silva-Lopes, Vera L. et al. | 2017
- 253
-
Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial DysplasiaHordyjewska, Ewa / Jaruga, Anna / Kandzierski, Grzegorz / Tylzanowski, Przemko et al. | 2017
- 261
-
A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian FamilyVahidi Mehrjardi, Mohammad Yahya / Maroofian, Reza / Kalantar, Seyed M. / Jaafarinia, Mojtaba / Chilton, John / Dehghani, Mohammadreza et al. | 2017
- 266
-
Low-Level Chromosomal Mosaicism in Neurodevelopmental DisordersOneda, Beatrice / Asadollahi, Reza / Azzarello-Burri, Silvia / Niedrist, Dunja / Baldinger, Rosa / Masood, Rahim / Schinzel, Albert / Latal, Bea / Jenni, Oskar G. / Rauch, Anita et al. | 2017
- 272
-
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Reportvan der Ven, Amelie T. / Shril, Shirlee / Ityel, Hadas / Vivante, Asaf / Chen, Jing / Hwang, Daw-Yang / Laricchia, Kristen M. / Lek, Monkol / Tasic, Velibor / Hildebrandt, Friedhelm et al. | 2017
-
Front & Back Matter| 2017