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Refinado por: Nome da Publicação: Human Genomics remover
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1
Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population
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Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population

Goljan, Ewa ; Abouelhoda, Mohammed ; Tahir, Asma ; ElKalioby, Mohamed ; Meyer, Brian ; Monies, Dorota

Human genomics, 2024-03, Vol.18 (1), p.30-30 [Periódico revisado por pares]

England: BioMed Central

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2
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Abouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, Dorota

Human genomics, 2021-08, Vol.15 (1), p.52-52, Article 52 [Periódico revisado por pares]

England: BioMed Central

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3
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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4
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Alsemari, Abdulaziz ; Al-Younes, Banan ; Goljan, Ewa ; Jaroudi, Dyala ; BinHumaid, Faisal ; Meyer, Brian F ; Arold, Stefan T ; Monies, Dorota

Human genomics, 2017-11, Vol.11 (1), p.28-28, Article 28 [Periódico revisado por pares]

England: BioMed Central

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5
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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6
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
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Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

Alsemari, Abdulaziz ; Al-Younes, Banan ; Goljan, Ewa ; Jaroudi, Dyala ; BinHumaid, Faisal ; Meyer, Brian F ; Arold, Stefan T ; Monies, Dorota

Human genomics, 2017-12, Vol.11 (1), p.33-33, Article 33 [Periódico revisado por pares]

England: BioMed Central

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