Author details
Author Nowak K |
Available item(s) by this author (6)
sorted by (Issue date descending, Issue date descending, System of projection of the document ascending) | Add the result to the basket | Make a suggestion | Refine your search
Article
Mroczek M ; Longman C ; Farrugia ME ; Kapetanovic Garcia S ; Ardicli D ; Topaloglu H ; Hernandez Lain A ; Orhan D ; Alikasifoglu M ; Duff J ; Specht S ; Nowak K ; Ravenscroft G ; Chao K ; Valivullah Z ; Donkervoort S ; Saade D ; Bonnemann C ; Straub V ; Yoon G | England | 07/04/2022Article
Marttila M ; Lehtokari VL ; Marston S ; Nyman TA ; Barnerias C ; Beggs AH ; Bertini E ; Ceyhan-Birsoy O ; Cintas P ; Gérard M ; Gilbert-Dussardier B ; Hogue JS ; Longman C ; Eymard B ; Frydman M ; Kang PB ; Klinge L ; Kolski H ; Lochmuller H ; Magy L ; Manel V ; Mayer M ; Mercuri E ; North KN ; Peudenier-Robert S ; Pihko H ; Probst FJ ; Reisin R ; Stewart W ; Taratuto AL ; de Visser M ; Wilichowski E ; Winer J ; Nowak K ; Laing NG ; Winder TL ; Monnier N ; Clarke NF ; Pelin K ; Gronholm M ; Wallgren-Pettersson C | 2014Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nowak K ; Sewry C ; Potter A ; Squire S ; Fisher R ; Marston S ; Davies K ; Laing N | 2005Communication n° 177. INTRODUCTION Mutations in the skeletal muscle alpha-actin gene (ACTA1) have been shown to cause pathologically distinct congenital myopathies: actin myopathy, intranuclear rod myopathy, nemaline myopathy, core-rod myopathy,[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Nowak K ; Sewry C ; Navarro C ; Reina C ; Muntoni F ; Laing N | 2005Communication n° 178. INTRODUCTION Dominant and recessive mutations have been identified in the skeletal muscle alpha actin gene (ACTA1). Previously, one child from a consanguineous French Gypsy kindred has been described who was homozygous for [...]Article
Nowak K ; McCullagh K ; Poon EP ; Davies KE | 2005Accès au résumé PubMed / to PubMed abstractArticle