TMLHE (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "TMLHE" in English language version.

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doi.org

ebi.ac.uk

ensembl.org

May2017.archive.ensembl.org

nih.gov

pubmed.ncbi.nlm.nih.gov

ncbi.nlm.nih.gov

  • "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • "Entrez Gene: TMLHE trimethyllysine hydroxylase, epsilon".
  • Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL (2011). "Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE". Hum. Mol. Genet. 20 (22): 4360–70. doi:10.1093/hmg/ddr363. PMC 3196886. PMID 21865298.
  • Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C (2012). "Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE". Transl Psychiatry. 2 (10): e179. doi:10.1038/tp.2012.102. PMC 3565810. PMID 23092983.

omim.org

semanticscholar.org

api.semanticscholar.org

  • Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP (September 2015). "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". American Journal of Medical Genetics. Part A. 167A (9): 2162–7. doi:10.1002/ajmg.a.37144. PMID 25943046. S2CID 205320608.
  • Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV (2005). "Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting". J. Cell. Physiol. 204 (3): 839–47. doi:10.1002/jcp.20332. PMID 15754339. S2CID 25224767.