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Refinado por: assunto: Life Sciences & Biomedicine remover
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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
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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 [Periódico revisado por pares]

United States: Elsevier Inc

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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
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
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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 [Periódico revisado por pares]

England: Elsevier Ltd

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6
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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7
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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8
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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9
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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10
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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Assunto 

  1. Humans  (54)
  2. Genetics & Heredity  (45)
  3. Female  (36)
  4. Mutation  (36)
  5. Male  (34)
  6. Phenotype  (24)
  7. Child  (21)
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  10. Genetic Aspects  (18)
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  12. Genetic Predisposition To Disease  (16)
  13. Phenotypes  (15)
  14. Alleles  (13)
  15. Adolescent  (13)
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