Որոնման արդյունքները - Else Merckoll
- Ցուցադրվում են 1 - 4 արդյունքները 4
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1
Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study Helena Andersson, Eva Kirkhus, Torhild Garen, Ragnhild Walle-Hansen, Else Merckoll, Øyvind Molberg
Հրապարակվել է 2017Artigo -
2
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform Tuva Barøy, Janet Koster, Petter Strømme, Merel S. Ebberink, Doriana Misceo, Sacha Ferdinandusse, Asbjørn Holmgren, Timothy Hughes, Else Merckoll, Jostein Westvik, Berit Woldseth, John H. Walter, Nicholas Wood, Bjørn Tvedt, Kristine Stadskleiv, Ronald J. A. Wanders, Hans R. Waterham, Eirik Frengen
Հրապարակվել է 2015Artigo -
3
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed Al Balwi, Ok-Hwa Kim, Tae‐Joon Cho, Gye‐Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniené, Ikuyo Kou, Masahiro Nakajima, H Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
Հրապարակվել է 2016Artigo -
4
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte, Lars Mørkrid, Niti Chokshi, Hans Christian Erichsen, Tomasz Gambin, Katja Benedikte Prestø Elgstøen, Magnar Bjørås, Marcin W. Włodarski, Marcus Krüger, Shalini N. Jhangiani, Donna M. Muzny, Ankita Patel, Kimiyo Raymond, Ghadir Sasa, Robert A. Krance, Caridad Martinez, Shirley Abraham, Carsten Speckmann, Stephan Ehl, Patricia Hall, Lisa R. Forbes, Else Merckoll, Jostein Westvik, Gen Nishimura, Cecilie F. Rustad, Tore G. Abrahamsen, Arild Rønnestad, Liv Osnes, Torstein Egeland, Olaug K. Rødningen, Christine R. Beck, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Ekkehart Lausch, I. Celine Hanson
Հրապարակվել է 2014Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Mutation
Dysplasia
Medicine
Anatomy
Axial skeleton
Cardiology
Chondrodysplasia punctata
Ciliopathies
Creatine kinase
Edema
Exome sequencing
Exon
Frameshift mutation
Gastroenterology
Gene isoform
Glycosylation
Immune system
Immunodeficiency
Internal medicine
Magnetic resonance imaging
Membrane
Missense mutation
Myositis
Pathology
Peroxisomal targeting signal
Peroxisome
Phenotype