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Refinado por: assunto: Genetic Aspects remover
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1
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
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Artigo
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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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2
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3
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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

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3
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy
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Artigo
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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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4
Identification of a novel genetic locus underlying tremor and dystonia
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Artigo
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Identification of a novel genetic locus underlying tremor and dystonia

Monies, Dorota ; Abou Al-Shaar, Hussam ; Goljan, Ewa A ; Al-Younes, Banan ; Al-Breacan, Muna Monther Abdullah ; Al-Saif, Maher Mohammed ; Wakil, Salma M ; Meyer, Brian F ; Khabar, Khalid S A ; Bohlega, Saeed

Human genomics, 2017-11, Vol.11 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central

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5
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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6
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

Wakil, Salma M. ; Monies, Dorota ; Hagos, Samya ; Al-Ajlan, Fahad ; Finsterer, Josef ; Al Qahtani, Aisha ; Ramzan, Khushnooda ; Al Humaidy, Rawan ; Al-Muhaizea, Mohamed A. ; Meyer, Brian ; Bohlega, Saeed A. Paracchini, Silvia

Case reports in genetics, 2018, Vol.2018, p.9468049-5 [Periódico revisado por pares]

United States: Hindawi

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7
Identification of novel genomic imbalances in Saudi patients with congenital heart disease
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Identification of novel genomic imbalances in Saudi patients with congenital heart disease

Al-Hassnan, Zuhair N ; Albawardi, Waad ; Almutairi, Faten ; AlMass, Rawan ; AlBakheet, Albandary ; Mustafa, Osama M ; AlQuait, Laila ; Shinwari, Zarghuna M A ; Wakil, Salma ; Salih, Mustafa A ; Al-Fayyadh, Majid ; Hassan, Saeed M ; Aljoufan, Mansour ; Al-Nakhli, Osima ; Levy, Brynn ; AlMaarik, Balsam ; Al-Hakami, Hana A ; Alsagob, Maysoon ; Colak, Dilek ; Kaya, Namik

Molecular cytogenetics, 2018-01, Vol.11 (1), p.9-9, Article 9 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
The Peroxisome Proliferator–Activated Receptor-γ2 P12A Polymorphism and Type 2 Diabetes in an Arab Population
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The Peroxisome Proliferator–Activated Receptor-γ2 P12A Polymorphism and Type 2 Diabetes in an Arab Population

Wakil, Salma M ; Al-Rubeaan, Khalid ; Alsmadi, Osama ; Imtiaz, Faiqa ; Carroll, Pamela ; Rajab, Mohammed ; Al-Katari, Shaden ; Al-Katari, Mohammed ; Meyer, Brian F

Diabetes care, 2006-01, Vol.29 (1), p.171-172 [Periódico revisado por pares]

American Diabetes Association

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9
Involvement of ATP-binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease
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Involvement of ATP-binding cassette, subfamily A polymorphism with susceptibility to coronary artery disease

ZARGAR, SEEMA ; WAKIL, SALMA ; MOBEIREK, ABDUELAH F ; AL-JAFARI, ABDULAZIZ A

Biomedical reports, 2013-11, Vol.1 (6), p.883-888 [Periódico revisado por pares]

England: D.A. Spandidos

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10
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Genome Biology, 2015-06, Vol.16 (1), p.134-134, Article 134 [Periódico revisado por pares]

England: BioMed Central

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