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1 |
Material Type: Artigo
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Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>CFinsterer, Josef ; Wakil, Salma M. ; Laccone, FrancoJournal of clinical neuroscience, 2019-06, Vol.64, p.4-5 [Periódico revisado por pares]Scotland: Elsevier LtdTexto completo disponível |
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2 |
Material Type: Artigo
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Abnormalities of Skin and Cutaneous Appendages in Neuromuscular DisordersFinsterer, Josef, MD, PhD ; Wakil, Salma, PhDPediatric neurology, 2015-10, Vol.53 (4), p.301-308 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and MiceShaheen, Ranad ; Anazi, Shams ; Ben-Omran, Tawfeg ; Seidahmed, Mohammed Zain ; Caddle, L. Brianna ; Palmer, Kristina ; Ali, Rehab ; Alshidi, Tarfa ; Hagos, Samya ; Goodwin, Leslie ; Hashem, Mais ; Wakil, Salma M. ; Abouelhoda, Mohamed ; Colak, Dilek ; Murray, Stephen A. ; Alkuraya, Fowzan S.American journal of human genetics, 2016-04, Vol.98 (4), p.643-652 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical PharmacogenomicsMizzi, Clint ; Dalabira, Eleni ; Kumuthini, Judit ; Dzimiri, Nduna ; Balogh, Istvan ; Başak, Nazli ; Böhm, Ruwen ; Borg, Joseph ; Borgiani, Paola ; Bozina, Nada ; Bruckmueller, Henrike ; Burzynska, Beata ; Carracedo, Angel ; Cascorbi, Ingolf ; Deltas, Constantinos ; Dolzan, Vita ; Fenech, Anthony ; Grech, Godfrey ; Kasiulevicius, Vytautas ; Kádaši, Ľudevít ; Kučinskas, Vaidutis ; Khusnutdinova, Elza ; Loukas, Yiannis L ; Macek, Jr, Milan ; Makukh, Halyna ; Mathijssen, Ron ; Mitropoulos, Konstantinos ; Mitropoulou, Christina ; Novelli, Giuseppe ; Papantoni, Ioanna ; Pavlovic, Sonja ; Saglio, Giuseppe ; Setric, Jadranka ; Stojiljkovic, Maja ; Stubbs, Andrew P ; Squassina, Alessio ; Torres, Maria ; Turnovec, Marek ; van Schaik, Ron H ; Voskarides, Konstantinos ; Wakil, Salma M ; Werk, Anneke ; Del Zompo, Maria ; Zukic, Branka ; Katsila, Theodora ; Lee, Ming Ta Michael ; Motsinger-Rief, Alison ; Mc Leod, Howard L ; van der Spek, Peter J ; Patrinos, George P Dubé, Marie-PierrePloS one, 2016-09, Vol.11 (9), p.e0162866 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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5 |
Material Type: Artigo
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic ArthritisWakil, Salma M. ; Monies, Dorota M. ; Abouelhoda, Mohamed ; Al‐Tassan, Nada ; Al‐Dusery, Haya ; Naim, Ewa A. ; Al‐Younes, Banan ; Shinwari, Jameela ; Al‐Mohanna, Futwan A. ; Meyer, Brian F. ; Al‐Mayouf, SulaimanArthritis & rheumatology (Hoboken, N.J.), 2015-01, Vol.67 (1), p.288-295 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi ArabsWakil, Salma M ; Ram, Ramesh ; Muiya, Nzioka P ; Mehta, Munish ; Andres, Editha ; Mazhar, Nejat ; Baz, Batoul ; Hagos, Samya ; Alshahid, Maie ; Meyer, Brian F ; Morahan, Grant ; Dzimiri, NdunaAtherosclerosis, 2016-02, Vol.245, p.62-70 [Periódico revisado por pares]Ireland: Elsevier B.VTexto completo disponível |
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7 |
Material Type: Artigo
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Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysisMay-Wilson, Sebastian ; Sud, Amit ; Law, Philip J. ; Palin, Kimmo ; Tuupanen, Sari ; Gylfe, Alexandra ; Hänninen, Ulrika A. ; Cajuso, Tatiana ; Tanskanen, Tomas ; Kondelin, Johanna ; Kaasinen, Eevi ; Sarin, Antti-Pekka ; Eriksson, Johan G. ; Rissanen, Harri ; Knekt, Paul ; Pukkala, Eero ; Jousilahti, Pekka ; Salomaa, Veikko ; Ripatti, Samuli ; Palotie, Aarno ; Renkonen-Sinisalo, Laura ; Lepistö, Anna ; Böhm, Jan ; Mecklin, Jukka-Pekka ; Al-Tassan, Nada A. ; Palles, Claire ; Farrington, Susan M. ; Timofeeva, Maria N. ; Meyer, Brian F. ; Wakil, Salma M. ; Campbell, Harry ; Smith, Christopher G. ; Idziaszczyk, Shelley ; Maughan, Timothy S. ; Fisher, David ; Kerr, Rachel ; Kerr, David ; Passarelli, Michael N. ; Figueiredo, Jane C. ; Buchanan, Daniel D. ; Win, Aung K. ; Hopper, John L. ; Jenkins, Mark A. ; Lindor, Noralane M. ; Newcomb, Polly A. ; Gallinger, Steven ; Conti, David ; Schumacher, Fred ; Casey, Graham ; Aaltonen, Lauri A. ; Cheadle, Jeremy P. ; Tomlinson, Ian P. ; Dunlop, Malcolm G. ; Houlston, Richard S.European journal of cancer (1990), 2017-10, Vol.84, p.228-238 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Retraction: 'Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population', by T. Tayeb, Dana H. Bakheet, Khaled Zaza, Salma M. Wakil and Nduna DzimiriJournal of pharmacy and pharmacology, 2016-03, Vol.68 (3), p.421-421 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegiaWakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas MBMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancerRodriguez‐Broadbent, Henry ; Law, Philip J. ; Sud, Amit ; Palin, Kimmo ; Tuupanen, Sari ; Gylfe, Alexandra ; Hänninen, Ulrika A. ; Cajuso, Tatiana ; Tanskanen, Tomas ; Kondelin, Johanna ; Kaasinen, Eevi ; Sarin, Antti‐Pekka ; Ripatti, Samuli ; Eriksson, Johan G. ; Rissanen, Harri ; Knekt, Paul ; Pukkala, Eero ; Jousilahti, Pekka ; Salomaa, Veikko ; Palotie, Aarno ; Renkonen‐Sinisalo, Laura ; Lepistö, Anna ; Böhm, Jan ; Mecklin, Jukka‐Pekka ; Al‐Tassan, Nada A. ; Palles, Claire ; Martin, Lynn ; Barclay, Ella ; Farrington, Susan M. ; Timofeeva, Maria N. ; Meyer, Brian F. ; Wakil, Salma M. ; Campbell, Harry ; Smith, Christopher G. ; Idziaszczyk, Shelley ; Maughan, Timothy S. ; Kaplan, Richard ; Kerr, Rachel ; Kerr, David ; Passarelli, Michael N. ; Figueiredo, Jane C. ; Buchanan, Daniel D. ; Win, Aung K. ; Hopper, John L. ; Jenkins, Mark A. ; Lindor, Noralane M. ; Newcomb, Polly A. ; Gallinger, Steven ; Conti, David ; Schumacher, Fred ; Casey, Graham ; Aaltonen, Lauri A. ; Cheadle, Jeremy P. ; Tomlinson, Ian P. ; Dunlop, Malcolm G. ; Houlston, Richard S.International journal of cancer, 2017-06, Vol.140 (12), p.2701-2708 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |