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1
New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3
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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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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
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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4
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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5
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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6
Identification of a novel genetic locus underlying tremor and dystonia
Identification of a novel genetic locus underlying tremor and dystonia
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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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7
Identification of novel genomic imbalances in Saudi patients with congenital heart disease
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
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
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First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

Alsagob, Maysoon ; Salih, Mustafa A ; Hamad, Muddathir H A ; Al-Yafee, Yusra ; Al-Zahrani, Jawaher ; Al-Bakheet, Albandary ; Nester, Michael ; Sakati, Nadia ; Wakil, Salma M ; AlOdaib, Ali ; Colak, Dilek ; Kaya, Namik

Molecular cytogenetics, 2019-05, Vol.12 (1), p.21-21, Article 21 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
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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10
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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