skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Refinado por: Base de dados/Biblioteca: MEDLINE Complete remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
2
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
5
Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Finsterer, Josef ; Scorza, Carla A. ; Scorza, Fulvio A. ; Wakil, Salma M.

Acta neurologica Belgica, 2019-09, Vol.119 (3), p.299-303 [Periódico revisado por pares]

Cham: Springer International Publishing

Texto completo disponível

Citações Citado por
6
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Jarvis, David ; Mitchell, Jonathan S ; Law, Philip J ; Palin, Kimmo ; Tuupanen, Sari ; Gylfe, Alexandra ; Hänninen, Ulrika A ; Cajuso, Tatiana ; Tanskanen, Tomas ; Kondelin, Johanna ; Kaasinen, Eevi ; Sarin, Antti-Pekka ; Kaprio, Jaakko ; Eriksson, Johan G ; Rissanen, Harri ; Knekt, Paul ; Pukkala, Eero ; Jousilahti, Pekka ; Salomaa, Veikko ; Ripatti, Samuli ; Palotie, Aarno ; Järvinen, Heikki ; Renkonen-Sinisalo, Laura ; Lepistö, Anna ; Böhm, Jan ; Meklin, 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 ; Buchanan, Daniel D ; Win, Aung K ; Hopper, John L ; Jenkins, Mark A ; Lindor, Noralane M ; Newcomb, Polly A ; Gallinger, Steve ; Conti, David ; Schumacher, Fred ; Casey, Graham ; Taipale, Jussi ; Aaltonen, Lauri A ; Cheadle, Jeremy P ; Dunlop, Malcolm G ; Tomlinson, Ian P ; Houlston, Richard S

British journal of cancer, 2016-07, Vol.115 (2), p.266-272 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia

Jan, Abid ; Basit, Sulman ; Wakil, Salma M. ; Ramzan, Khushnooda ; Ahmad, Wasim

Archives of Dermatological Research, 2015-11, Vol.307 (9), p.793-801 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
8
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
9
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
Material Type:
Artigo 		Adicionar ao Meu Espaço

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

Texto completo disponível

Citações Citado por
10
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3
Material Type:
Artigo 		Adicionar ao Meu Espaço

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3

Alshahid, Maie ; Wakil, Salma M ; Al-Najai, Mohammed ; Muiya, Nzioka P ; Elhawari, Samar ; Gueco, Daisy ; Andres, Editha ; Hagos, Samia ; Mazhar, Nejat ; Meyer, Brian F ; Dzimiri, Nduna

Human genomics, 2013-06, Vol.7 (1), p.15-15, Article 15 [Periódico revisado por pares]

England: BioMed Central

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Refinar Meus Resultados

Assunto 

  1. Science & Technology  (45)
  2. Life Sciences & Biomedicine  (42)
  3. Humans  (37)
  4. Female  (22)
  5. Male  (21)
  6. Genetics & Heredity  (20)
  7. Mutation  (17)
  8. Adult  (13)
  9. Phenotype  (11)
  10. Adolescent  (11)
  11. Child, Preschool  (10)
  12. Child  (9)
  13. Genomes  (9)
  14. Genes  (9)
  15. Pedigree  (9)
  16. Genetics  (8)
  17. Genetic Aspects  (8)
  18. Middle Aged  (8)
  19. Saudi Arabia  (7)
  20. Young Adult  (7)
  21. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de2008  (7)
  2. 2008Até2012  (5)
  3. 2013Até2015  (12)
  4. 2016Até2020  (22)
  5. Após 2020  (8)
  6. Mais opções open sub menu

Idioma 

  1. Japonês  (6)
  2. Alemão  (1)
  3. Mais opções open sub menu

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.