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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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2
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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3
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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4
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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5
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
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A novel APC mutation defines a second locus for Cenani–Lenz syndrome

Patel, Nisha ; Faqeih, Eissa ; Anazi, Shams ; Alfawareh, Mohammad ; Wakil, Salma M ; Colak, Dilek ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.317-321 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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6
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus
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Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus

Shaheen, Ranad ; Al Hashem, Amal ; Alghamdi, Mohammed H ; Seidahmad, Mohammed Zain ; Wakil, Salma M ; Dagriri, Khalid ; Keavney, Bernard ; Goodship, Judith ; Alyousif, Saad ; Al-Habshan, Fahad M ; Alhussein, Khalid ; Almoisheer, Agaadir ; Ibrahim, Niema ; Alkuraya, Fowzan S

Journal of medical genetics, 2015-05, Vol.52 (5), p.322-329 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia
New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia
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New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

Dasouki, Majed J ; Wakil, Salma M ; Al-Harazi, Olfat ; Alkorashy, Maarab ; Muiya, Nzioka P ; Andres, Editha ; Hagos, Samya ; Aldusery, Haya ; Dzimiri, Nduna ; Colak, Dilek

Omics (Larchmont, N.Y.), 2020-01, Vol.24 (1), p.16-28 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc., publishers

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8
Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene
Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene
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Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene

Finsterer, Josef ; Wakil, Salma ; Laccone, Franco

Annals of the Indian Academy of Neurology, 2017-01, Vol.20 (1), p.75-76 [Periódico revisado por pares]

India: Wolters Kluwer India Pvt. Ltd

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9
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Monies, Dorota ; Alhindi, Hindi N ; Almuhaizea, Mohamed A ; Abouelhoda, Mohamed ; Alazami, Anas M ; Goljan, Ewa ; Alyounes, Banan ; Jaroudi, Dyala ; AlIssa, Abdulelah ; Alabdulrahman, Khalid ; Subhani, Shazia ; El-Kalioby, Mohamed ; Faquih, Tariq ; Wakil, Salma M ; Altassan, Nada A ; Meyer, Brian F ; Bohlega, Saeed

Human genomics, 2016-09, Vol.10 (1), p.32-32, Article 32 [Periódico revisado por pares]

England: BioMed Central

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10
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
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Correction: 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 ; Sertić, 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

PloS one, 2017-02, Vol.12 (2), p.e0172595-e0172595 [Periódico revisado por pares]

United States: Public Library of Science

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