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Page 1
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.
Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA. Mumtaz R, et al. J Am Soc Nephrol. 2017 May;28(5):1507-1520. doi: 10.1681/ASN.2016020169. Epub 2016 Dec 8. J Am Soc Nephrol. 2017. PMID: 27932475 Free PMC article.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: mumtaz r. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.
First HPSE2 missense mutation in urofacial syndrome.
Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: mumtaz r. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, Hübner CA. Beetz C, et al. Among authors: mumtaz r. J Clin Invest. 2013 Oct;123(10):4273-82. doi: 10.1172/JCI65665. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051375 Free PMC article.
Canadian Spine Society: 24th Annual Scientific Conference, Wednesday, February 28 - Saturday, March 2, Fairmont Chateau Whistler, Whistler, B.C., Canada.
Dionne A, Al-Zakri M, Labelle H, Joncas J, Parent S, Mac-Thiong JM, Miyanji F, Lonner B, Eren A, Cahill P, Parent S, Newton P, Dermott JA, Jaakkimainen L, To T, Bouchard M, Howard A, Lebel DE, Hardy S, Malhotra AK, Dermott J, Thevarajah D, Mathias KDA, Yoon S, Sakhrekar R, Lebel DE, Kim DJ, Hadi A, Doria A, Mitani A, Dermott J, Howard A, Lebel D, Yoon S, Mathias K, Dermott J, Lebel D, Miyanji F, Newton P, Lonner B, Bastrom T, Samdani A, Roy-Beaudry M, Beauséjour M, Imbeault R, Dufresne J, Parent S, Romeo J, Livock H, Smit K, Jarvis J, Tice A, Chan VK, Cho R, Poon S, Skaggs DL, Shumilak GK, Rocos B, Sardi JP, Charalampidis A, Gum J, Lewis SJ, Tretiakov PS, Onafowokan O, Mir J, Das A, Williamson T, Dave P, Imbo B, Lebovic J, Jankowski P, Passias PG, Lewis S, Aljamaan Y, Lenke LG, Smith J, Varshney VP, Sahjpaul R, Paquette S, Osborn J, Pelletier-Roy R, Asmussen M, Birk M, Ludwig T, Nicholls F, Zohar A, Loomans J, Pellise F, Smith JS, Kato S, Sardar Z, Lenke L, Lewis SJ, Abbas A, Toor J, Sahi G, Kovacevic D, Lex J, Miyanji F, Rampersaud R, Perruccio AV, Mahomed N, Canizares M; CSORN Investigators; Rizkallah M, Lebreton MA, Boubez G, Shen J, AlShakfa F, Kamel Y, Osman G, Wang Z, Koegl … See abstract for full author list ➔ Dionne A, et al. Among authors: mumtaz r. Can J Surg. 2024 Nov 13;67(6suppl1):S17-S76. doi: 10.1503/cjs.011424. Print 2024 Nov-Dec. Can J Surg. 2024. PMID: 39537311 Free PMC article. No abstract available.
A LLM-Based Hybrid-Transformer Diagnosis System in Healthcare.
Wu D, Nie L, Mumtaz RA, Agarwal K. Wu D, et al. Among authors: mumtaz ra. IEEE J Biomed Health Inform. 2024 Oct 16;PP. doi: 10.1109/JBHI.2024.3481412. Online ahead of print. IEEE J Biomed Health Inform. 2024. PMID: 39412973
49 results