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74 results

  1. MED12-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1676
    ... prognathism, small mouth, short philtrum, and sparse hair [ Lesca et al 2013 , Charzewska et al 2018 , Amodeo ... disability, speech delay, hypernasal speech, dyspraxia, and dysgraphia [ Lesca et al 2013 , Charzewska et al 2018 , Rubinato ...
  2. GRIN2A-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK385627
    ... pathogenic variant in GRIN2A [ Lemke et al 2013 , Lesca et al 2013 , Carvill et al 2013 , Strehlow ... LKS) is a subtype [ Carvill et al 2013 , Lesca et al 2013 ]. Related self-limited focal epilepsies ...
  3. Progressive Myoclonus Epilepsy, Lafora Type - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1389
    ... biopsy involves a risk of false negative results [ Lesca et al 2010 ], especially in newly symptomatic individuals, ... yet unknown genetic and/or environmental modifying factors [ Lesca et al 2010 ]. Some studies have indicated that ...
  4. KCNQ2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK32534
    ... Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L. A ... I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Epilepsy- ...
  5. Hereditary Hemorrhagic Telangiectasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1351
    ... Toydemir et al 2006b , Letteboer et al 2006 , Lesca et al 2007 ]. Pulmonary hypertension in the absence ... Sabbà C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME. Liver ...
  6. STXBP1 Encephalopathy with Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396561
    ... Portes V, Edery P, Calender A, Sanlaville D, Lesca G. Molecular characterization of a cohort of 73 ... 38:128-31. [ PubMed : 26212315 ] Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli ...
  7. ALS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1243
    ... pathogenic variants. Genetic heterogeneity has been demonstrated by Lesca et al [2003] by the fact that only ... 64 :210–5. [ PubMed : 12919135 ] Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, ...
  8. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, National Library of Medicine .... 
    Publication: Washington : U.S. Dept. of Health, Education, and Welfare, Public Health Service : G.P.O., 1959-1961
    resource.nlm.nih.gov/8209737X1
    ... Phazy, Montdauphin-Guillestre. [Lyon] Gap, Ribaud, 1947. 107p. LESCA, Henri Francois Louis, 1911- "Role de Pem- bolie ... dans l'hemiplegie pleurale. Paris, Arnette, 1941. 56p. LESCA, Sergio, see Redaelli, P., Lesca, S., & Palazzi, D. Guida ...
  9. SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK379665
    ... Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra ... Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche ...
  10. TBC1D24-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK274566
    ... Verstreken P, Cardon A, Stražišar BG, Holder JL, Lesca G, Mancardi MM. TBC1D24 genotype–phenotype correlation: epilepsies ... Obadia N, Cacciagli P, Milh M, Villard L, Lesca G. Homozygous TBC1D24 mutation in two siblings with ...
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