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Phenotypic variation and allelic heterogeneity in young patients with papillon-lefevre syndrome
Phenotypic variation and allelic heterogeneity in young patients with papillon-lefevre syndrome
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Phenotypic variation and allelic heterogeneity in young patients with papillon-lefevre syndrome

ULLRRO, Christer ; EL-SAMADI, Safia ; BOUMAH, Christine ; AL-YOUSEF, Nujoud ; WAKIL, Salma ; TWETMAN, Svante ; ALFADLEY, Abdullah ; THESTRUP-PEDERSEN, Kristian ; MEYER, Brian

Acta dermato-venereologica, 2006-01, Vol.86 (1), p.3-7 [Periódico revisado por pares]

Uppsala: Acta dermato-venereologica

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2
A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders
A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders
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A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders

Muiya, Nzioka P ; Wakil, Salma M ; Tahir, Asma I ; Hagos, Samya ; Najai, Mohammed ; Gueco, Daisy ; Al-Tassan, Nada ; Andres, Editha ; Mazher, Nejat ; Meyer, Brian F ; Dzimiri, Nduna

Human genomics, 2013-12, Vol.7 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central

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3
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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4
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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5
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
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A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

Al-Hassnan, Zuhair N ; Shinwari, Zarghuna Ma ; Wakil, Salma M ; Tulbah, Sahar ; Mohammed, Shamayel ; Rahbeeni, Zuhair ; Alghamdi, Mohammed ; Rababh, Monther ; Colak, Dilek ; Kaya, Namik ; Al-Fayyadh, Majid ; Alburaiki, Jehad

BMC medical genetics, 2016-01, Vol.17 (1), p.3-3, Article 3 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype
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Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype

Altassan, Ruqaiah ; Saud, Haya Al ; Masoodi, Tariq Ahmad ; Dosssari, Haya Al ; Khalifa, Ola ; Al‐Zaidan, Hamad ; Sakati, Nadia ; Rhabeeni, Zuhair ; Al‐Hassnan, Zuhair ; Binamer, Yousef ; Alhashemi, Nadia ; Wade, William ; Al‐Zayed, Zayed ; Al‐Sayed, Moeen ; Al‐Muhaizea, Mohamed A. ; Meyer, Brian ; Al‐Owain, Mohammad ; Wakil, Salma M.

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1009-1016 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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7
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
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GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Patel, Nisha ; Shamseldin, Hanan E. ; Sakati, Nadia ; Khan, Arif O. ; Softa, Ameen ; Al-Fadhli, Fatima M. ; Hashem, Mais ; Abdulwahab, Firdous M. ; Alshidi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Wakil, Salma M. ; Colak, Dilek ; Alkuraya, Fowzan S.

American journal of human genetics, 2017-05, Vol.100 (5), p.831-836 [Periódico revisado por pares]

United States: Elsevier Inc

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8
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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9
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Stephen, Joshi ; Maddirevula, Sateesh ; Nampoothiri, Sheela ; Burke, John D. ; Herzog, Matthew ; Shukla, Anju ; Steindl, Katharina ; Eskin, Ascia ; Patil, Siddaramappa J. ; Joset, Pascal ; Lee, Hane ; Garrett, Lisa. J. ; Yokoyama, Tadafumi ; Balanda, Nicholas ; Bodine, Steven P. ; Tolman, Nathanial J. ; Zerfas, Patricia M. ; Zheng, Allison ; Ramantani, Georgia ; Girisha, Katta M. ; Rivas, Cecilia ; Suresh, Pujar V. ; Elkahloun, Abdel ; Alsaif, Hessa S. ; Wakil, Salma M. ; Mahmoud, Laila ; Ali, Rehab ; Prochazkova, Michaela ; Kulkarni, Ashok B. ; Ben-Omran, Tawfeg ; Colak, Dilek ; Morris, H. Douglas ; Rauch, Anita ; Martinez-Agosto, Julian A. ; Nelson, Stanley F. ; Alkuraya, Fowzan S. ; Gahl, William A. ; Malicdan, May Christine V.

American journal of human genetics, 2018-12, Vol.103 (6), p.948-967 [Periódico revisado por pares]

United States: Elsevier Inc

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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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