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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover
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1
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population
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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population

Goljan, Ewa ; Abouelhoda, Mohammed ; ElKalioby, Mohamed M ; Jabaan, Amjad ; Alghithi, Nada ; Meyer, Brian F ; Monies, Dorota Patel, Girijesh Kumar

PloS one, 2022-01, Vol.17 (1), p.e0263137-e0263137 [Periódico revisado por pares]

United States: Public Library of Science

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2
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

Alazami, Anas M ; Al-Helale, Maryam ; Alhissi, Safa ; Al-Saud, Bandar ; Alajlan, Huda ; Monies, Dorota ; Shah, Zeeshan ; Abouelhoda, Mohamed ; Arnaout, Rand ; Al-Dhekri, Hasan ; Al-Numair, Nouf S ; Ghebeh, Hazem ; Sheikh, Farrukh ; Al-Mousa, Hamoud

Frontiers in immunology, 2018-02, Vol.9, p.203-203 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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3
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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4
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
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High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots

Al-Mousa, Hamoud ; Al-Dakheel, Ghadah ; Jabr, Amal ; Elbadaoui, Fahd ; Abouelhoda, Mohamed ; Baig, Mansoor ; Monies, Dorota ; Meyer, Brian ; Hawwari, Abbas ; Dasouki, Majed

Frontiers in immunology, 2018-04, Vol.9, p.782-782 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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5
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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6
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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7
Higher PD-L1 Immunohistochemical Detection Signal in Frozen Compared to Matched Paraffin-Embedded Formalin-Fixed Tissues
Higher PD-L1 Immunohistochemical Detection Signal in Frozen Compared to Matched Paraffin-Embedded Formalin-Fixed Tissues
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Higher PD-L1 Immunohistochemical Detection Signal in Frozen Compared to Matched Paraffin-Embedded Formalin-Fixed Tissues

Ghebeh, Hazem ; Mansour, Fatmah A. ; Colak, Dilek ; Alfuraydi, Akram A. ; Al-Thubiti, Amal A. ; Monies, Dorota ; Al-Alwan, Monther ; Al-Tweigeri, Taher ; Tulbah, Asma

Antibodies (Basel), 2021-06, Vol.10 (3), p.24 [Periódico revisado por pares]

Basel: MDPI AG

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8
Molecular classification of blood and bleeding disorder genes
Molecular classification of blood and bleeding disorder genes
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Molecular classification of blood and bleeding disorder genes

Baz, Batoul ; Abouelhoda, Mohamed ; Owaidah, Tarek ; Dasouki, Majed ; Monies, Dorota ; Al Tassan, Nada

Npj genomic medicine, 2021-07, Vol.6 (1), p.62-62, Article 62 [Periódico revisado por pares]

London: Nature Publishing Group

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9
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
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Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Dasouki, Majed ; Alaiya, Ayodeele ; ElAmin, Tanziel ; Shinwari, Zakia ; Monies, Dorota ; Abouelhoda, Mohamed ; Jabaan, Amjad ; Almourfi, Feras ; Rahbeeni, Zuhair ; Alsohaibani, Fahad ; Almohareb, Fahad ; Al-Zahrani, Hazzaa ; Guzmán Vega, Francisco J. ; Arold, Stefan T. ; Aljurf, Mahmoud ; Ahmed, Syed Osman

iScience, 2021-03, Vol.24 (3), p.102214-102214, Article 102214 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Bohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada A

BMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]

England: BioMed Central Ltd

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