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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2012 | 1 |
2013 | 3 |
2014 | 2 |
2024 | 0 |
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6 results
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Page 1
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20.
Am J Med Genet A. 2014.
PMID: 24375884
Free PMC article.
A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
Waddell LB, Tran J, Zheng XF, Bönnemann CG, Hu Y, Evesson FJ, Lek M, Arbuckle S, Wang MX, Smith RL, North KN, Clarke NF.
Waddell LB, et al.
Neuromuscul Disord. 2011 Nov;21(11):776-81. doi: 10.1016/j.nmd.2011.05.007. Epub 2011 Jun 17.
Neuromuscul Disord. 2011.
PMID: 21683594
Free PMC article.
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Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB.
Malfatti E, et al.
J Neuropathol Exp Neurol. 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506.
J Neuropathol Exp Neurol. 2013.
PMID: 23965743
Free PMC article.
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Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG.
Meilleur KG, et al.
J Neuropathol Exp Neurol. 2014 May;73(5):425-41. doi: 10.1097/NEN.0000000000000065.
J Neuropathol Exp Neurol. 2014.
PMID: 24709677
Free PMC article.
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'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.
Donkervoort S, Schindler A, Tesi-Rocha C, Schreiber A, Leach ME, Dastgir J, Hu Y, Mankodi A, Wagner KR, Friedman NR, Bönnemann CG.
Donkervoort S, et al.
Neuromuscul Disord. 2013 Dec;23(12):955-61. doi: 10.1016/j.nmd.2013.08.003. Epub 2013 Aug 11.
Neuromuscul Disord. 2013.
PMID: 24070816
Free PMC article.
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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
Voermans NC, Kempers M, Lammens M, van Alfen N, Janssen MC, Bönnemann C, van Engelen BG, Hamel BC.
Voermans NC, et al.
Am J Med Genet A. 2012 Apr;158A(4):850-5. doi: 10.1002/ajmg.a.35232. Epub 2012 Mar 9.
Am J Med Genet A. 2012.
PMID: 22407744
Free PMC article.
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