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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 Mice
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
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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 Mice

Shaheen, 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 Inc

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2
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
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A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Mizzi, 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-Pierre

PloS one, 2016-09, Vol.11 (9), p.e0162866 [Periódico revisado por pares]

United States: Public Library of Science

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3
Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C
Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C
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Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C

Finsterer, Josef ; Wakil, Salma M. ; Laccone, Franco

Journal of clinical neuroscience, 2019-06, Vol.64, p.4-5 [Periódico revisado por pares]

Scotland: Elsevier Ltd

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4
Multivariate piecewise linear regression model to predict radiosensitivity using the association with the genome-wide copy number variation
Multivariate piecewise linear regression model to predict radiosensitivity using the association with the genome-wide copy number variation
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Multivariate piecewise linear regression model to predict radiosensitivity using the association with the genome-wide copy number variation

Tobiasz, Joanna ; Al-Harbi, Najla ; Bin Judia, Sara ; Majid Wakil, Salma ; Polanska, Joanna ; Alsbeih, Ghazi

Frontiers in oncology, 2023-10, Vol.13, p.1154222-1154222 [Periódico revisado por pares]

Frontiers Media S.A

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5
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

Wakil, 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, Sulaiman

Arthritis & rheumatology (Hoboken, N.J.), 2015-01, Vol.67 (1), p.288-295 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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6
A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs
A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs
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A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs

Wakil, 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, Nduna

Atherosclerosis, 2016-02, Vol.245, p.62-70 [Periódico revisado por pares]

Ireland: Elsevier B.V

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7
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
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Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

May-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 Ltd

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8
Interleukin-8 Dedifferentiates Primary Human Luminal Cells to Multipotent Stem Cells
Interleukin-8 Dedifferentiates Primary Human Luminal Cells to Multipotent Stem Cells
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Interleukin-8 Dedifferentiates Primary Human Luminal Cells to Multipotent Stem Cells

Al-Khalaf, Huda H. ; Ghebeh, Hazem ; Wakil, Salma M. ; Al-Mohanna, Falah ; Aboussekhra, Abdelilah

Molecular and cellular biology, 2020-04, Vol.40 (9) [Periódico revisado por pares]

United States: Taylor & Francis

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9
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

Afzal, Sibtain ; Ramzan, Khushnooda ; Ullah, Sajjad ; Wakil, Salma M ; Jamal, Arshad ; Basit, Sulman ; Waqar, Ahmed Bilal

BMC medical genetics, 2020-01, Vol.21 (1), p.20-20, Article 20 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
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Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M ; Alhissi, Safa ; Al Dossari, Haya ; Alqahtani, Ayesha ; Shibin, Sherin ; Melaiki, Brahim T ; Finsterer, Josef ; Al-Hashem, Amal ; Bohlega, Saeed ; Alazami, Anas M

BMC medical genetics, 2019-07, Vol.20 (1), p.119-119, Article 119 [Periódico revisado por pares]

England: BioMed Central Ltd

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