Partial tetrasomy 14 associated with multiple malformations-Reference-Cited by-同舟云学术

Partial tetrasomy 14 associated with multiple malformations

Published:2013-04-23 Issue:6 Volume:161 Page:1284-1290
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Winberg Johanna¹,Lagerstedt Robinson Kristina¹,Naess Karin²,Lesko Nicole,Wibom Rolf²,Liedén Agne¹,Anderlid Britt-Marie¹,Graff Caroline³,Nordenskjöld Agneta,Nordgren Ann¹,Gustavsson Peter¹

Affiliation:

1. Department of Molecular Medicine and Surgery and Center for Molecular Medicine; Karolinska Institutet; Stockholm; Sweden

2. Department of Laboratory Medicine and Centre for Inherited Metabolic Diseases; Karolinska Institutet and Karolinska University Hospital; Stockholm; Sweden

3. Department of Neurobiology, Care Sciences and Society, KI-ADRC, KASPAC, Novum; Karolinska Institutet; Stockholm; Sweden

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35887/fullpdf

Reference20 articles.

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3. Electrophoresis techniques to investigate defects in oxidative phosphorylation;Calvaruso;Methods,2008

4. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency;Calvo;Nat Genet,2010

5. Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q;Eggermann;Am J Med Genet Part A,2005

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