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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
Material Type:
Artículo 		Añadir a Mi Portal

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 [Revista revisada por pares]

United States: Public Library of Science

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2
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
Material Type:
Artículo 		Añadir a Mi Portal

Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Shaheen, Ranad ; Alsahli, Saud ; Ewida, Nour ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Patel, Nisha ; Al Qahtani, Awad ; Alhebbi, Homoud ; Alhashem, Amal ; Al‐Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Abouelhoda, Mohamed ; Monies, Dorota ; Al‐Hussaini, Abdulrahman ; Alzouman, Muneerah A. ; Shagrani, Mohammad ; Faqeih, Eissa ; Alkuraya, Fowzan S.

Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079 [Revista revisada por pares]

United States: Wiley Subscription Services, Inc

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3
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Material Type:
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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Monies, Dorota ; Vågbø, Cathrine Broberg ; Al-Owain, Mohammad ; Alhomaidi, Suzan ; Alkuraya, Fowzan S.

American journal of human genetics, 2019-06, Vol.104 (6), p.1202-1209 [Revista revisada por pares]

United States: Elsevier Inc

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4
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
Material Type:
Artículo 		Añadir a Mi Portal

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 [Revista revisada por pares]

Switzerland: Frontiers Research Foundation

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5
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
Material Type:
Artículo 		Añadir a Mi Portal

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 [Revista revisada por pares]

England: BioMed Central

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6
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
Material Type:
Artículo 		Añadir a Mi Portal

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 [Revista revisada por pares]

Switzerland: Frontiers Research Foundation

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7
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
Material Type:
Artículo 		Añadir a Mi Portal

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Bohlega, Saeed A. ; Abou-Al-Shaar, Hussam ; AlDakheel, Amaal ; Alajlan, Huda ; Bohlega, Balsam S. ; Meyer, Brian F. ; Monies, Dorota ; Cupler, Edward J. ; Al-Saif, Amr M.

Parkinsonism & related disorders, 2019-07, Vol.64, p.145-149 [Revista revisada por pares]

England: Elsevier Ltd

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8
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
Material Type:
Artículo 		Añadir a Mi Portal

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 [Revista revisada por pares]

England: BioMed Central

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9
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
Material Type:
Artículo 		Añadir a Mi Portal

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 [Revista revisada por pares]

England: BioMed Central

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10
New or vanishing frontiers: LACC1-associated juvenile arthritis
New or vanishing frontiers: LACC1-associated juvenile arthritis
Material Type:
Artículo 		Añadir a Mi Portal

New or vanishing frontiers: LACC1-associated juvenile arthritis

Al-Mayouf, Sulaiman M. ; Yateem, Mada ; Al-Dusery, Haya ; Monies, Dorota ; Wakil, Salma ; AlShiakh, Manal ; AlEnazi, Abdullatif ; Aladaileh, Boshra ; Alzyoud, Raed ; Meyer, Brian

International journal of pediatrics & adolescent medicine, 2021-03, Vol.8 (1), p.44-47 [Revista revisada por pares]

Netherlands: Elsevier B.V

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