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- ... posted live 12 August 2008 (lt) Original submission References Literature Cited al-Sheyyab M, Jarrah N, Younis E, Shennak MM, Hadidi A, Awidi A, El-Shanti H, Ajlouni K. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. ...
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- ... posted live 7 July 2008 (kmb) Original submission References Literature Cited Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L. A missense founder mutation in VLDLR is associated with dysequilibrium syndrome without quadrupedal locomotion. BMC Med Genet. 2012;13: ...
- ... Frank Baas, MD, PhD (2014-present) Peter G Barth, MD, PhD; University of Amsterdam (2014-2020) Veerle RC Eggens, MSc; University of ... Cited Biancheri R, Cassandrini D, Pinto F, ...
- ... contain more recent information. — ED. Table A. DYRK1A Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
- ... of modality Goldwasser, P., Feldman, J. G., and Barth, R. H. ... reference list Golper, T. A. and others. (1996) Risk ...
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- ... de novo heterozygous variants RLIM duplication; Tonne-Kalscheuer ... advocacy and consumer reference groups and aims to translate genomic discoveries to ...