Publications by authors named "Eva Kimber"

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Classification of arthrogryposis.
Judith G Hall, Eva Kimber, Klaus Dieterich

Am J Med Genet C Semin Med Genet· September 2019

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International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.
Noémi Dahan-Oliel, Sarah Cachecho, Douglas Barnes, Tanya Bedard, Ann M Davison, Eva Kimber

Am J Med Genet C Semin Med Genet· September 2019

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The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.
Klaus Dieterich, Pauline Le Tanno, Eva Kimber, Pierre-Simon Jouk, Judith Hall

Am J Med Genet C Semin Med Genet· September 2019

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Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.
Klaus Dieterich, Eva Kimber, Judith G Hall

Am J Med Genet C Semin Med Genet· September 2019

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Genetics and Classifications.
Judith G Hall, Eva Kimber, Harold J P van Bosse

J Pediatr Orthop· October 2017

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AMC: amyoplasia and distal arthrogryposis.
Eva Kimber

J Child Orthop· December 2015

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Distal arthrogryposis: clinical and genetic findings.
Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Már Tulinius

Acta Paediatr· August 2012

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Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
Homa Tajsharghi, Eva Kimber, Anna-Karin Kroksmark, Ragnar Jerre, Mar Tulinius

Arch Neurol· August 2008

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Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.
Julien Ochala, Mingxin Li, Homa Tajsharghi, Eva Kimber, Mar Tulinius

J Physiol· June 2007

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Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Eva L Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg

Neuromuscul Disord· December 2006

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Muscle involvement and motor function in amyoplasia.
Anna-Karin Kroksmark, Eva Kimber, Ragnar Jerre, Eva Beckung, Mar Tulinius

Am J Med Genet A· August 2006

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Multiple congenital contractures: birth prevalence, etiology, and outcome.
Niklas Darin, Eva Kimber, Anna-Karin Kroksmark, Már Tulinius

J Pediatr· January 2002

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