Difference between revisions of "J Med Genet"
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{{Journal | {{Journal | ||
|Title=Journal of Medical Genetics | |Title=[http://jmg.bmj.com/ Journal of Medical Genetics] | ||
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Latest revision as of 09:46, 5 December 2017
Journal title and website | Journal of Medical Genetics |
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Publications
Reference | Published | View | |
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Beninca 2020 J Med Genet | Beninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, Robinson AJ, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, Santos ML, de Souza RL, Fernandez-Vizarra E, Whitworth A, Zeviani M (2020) Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. J Med Genet 58:155-67. | 2020 | PMID: 32439808 |
Gerber 2016 J Med Genet | Gerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM (2016) Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. J Med Genet 54:346-56. | 2016 | PMID: 28031252 |
Jackson 2014 J Med Genet | Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautsch M, Häberli A, Gallati S, Schaller A (2014) Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial Complex II deficiency. J Med Genet 51:170-5. | 2014 | PMID:24367056 |
Casasnovas 2010 J Med Genet | Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martinez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56. | 2010 | PMID: 19889647 |
Casasnovas 2009 J Med Genet | Casasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56. | 2010 | PMID: 19889647 |