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Refinado por: Base de dados/Biblioteca: ScienceDirect (Online service) remover
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1
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
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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3
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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4
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Al-Mousa, Hamoud, MD ; Abouelhoda, Mohamed, PhD ; Monies, Dorota M., PhD ; Al-Tassan, Nada, PhD ; Al-Ghonaium, Abdulaziz, MD ; Al-Saud, Bandar, MD ; Al-Dhekri, Hasan, MD ; Arnaout, Rand, MD ; Al-Muhsen, Saleh, MD ; Ades, Nazema, BN ; Elshorbagi, Sahar, MD ; Al Gazlan, Sulaiman, MD ; Sheikh, Farrukh, MD ; Dasouki, Majed, MD ; El-Baik, Lina, BSc ; Elamin, Tanzeil, MS ; Jaber, Amal, BSc ; Kheir, Omnia, BPharm ; El-Kalioby, Mohamed, MS ; Subhani, Shazia, MS ; Al Idrissi, Eman, MD ; Al-Zahrani, Mofareh, MD ; Alhelale, Maryam, MD ; Alnader, Noukha, BSc ; Al-Otaibi, Afaf, BSc ; Kattan, Rana, BSc ; Al Abdelrahman, Khalid, BSc ; Al Breacan, Muna M., BSc ; Bin Humaid, Faisal S., BSc ; Wakil, Salma Majid, PhD ; Alzayer, Fadi, BSc ; Al-Dusery, Haya, BSc ; Faquih, Tariq, MS ; Al-Hissi, Safa, BSc ; Meyer, Brian F., PhD ; Hawwari, Abbas, PhD

Journal of allergy and clinical immunology, 2016-06, Vol.137 (6), p.1780-1787 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.

Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M ; Al-Hindi, Hindi N ; Al-Muhaizea, Mohamed A ; Jaroudi, Dyala J ; Al-Younes, Banan ; Naim, Ewa A ; Wakil, Salma M ; Meyer, Brian F ; Bohlega, Saeed

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.353-359 [Periódico revisado por pares]

England: Elsevier B.V

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7
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy
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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, David T. ; Donkervoort, Sandra ; Müller, Juliane S. ; Knierim, Ellen ; Bharucha-Goebel, Diana ; Faqeih, Eissa Ali ; Bell, Stephanie K. ; AlFaifi, Abdullah Y. ; Monies, Dorota ; Millan, Francisca ; Retterer, Kyle ; Dyack, Sarah ; MacKay, Sara ; Morales-Gonzalez, Susanne ; Giunta, Michele ; Munro, Benjamin ; Hudson, Gavin ; Scavina, Mena ; Baker, Laura ; Massini, Tara C. ; Lek, Monkol ; Hu, Ying ; Ezzo, Daniel ; AlKuraya, Fowzan S. ; Kang, Peter B. ; Griffin, Helen ; Foley, A. Reghan ; Schuelke, Markus ; Horvath, Rita ; Bönnemann, Carsten G.

American journal of human genetics, 2018-05, Vol.102 (5), p.858-873 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders
Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders
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Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders

Bohlega, Saeed ; Abusrair, Ali H. ; Al-Qahtani, Zainah ; Guzmán-Vega, Francisco J. ; Ramakrishnan, Reshmi ; Aldosari, Haya ; Aldakheel, Amaal ; Al-Qahtani, Salma ; Monies, Dorota ; Arold, Stefan T.

Parkinsonism & related disorders, 2023-03, Vol.108, p.105323-105323, Article 105323 [Periódico revisado por pares]

England: Elsevier Ltd

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9
Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing
Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing
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Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing

Baz, Betoul ; Owaidah, Tarek ; Dasouki, Majed ; Abouelhoda, Mohammed ; Monies, Dorota ; Al Tassan, Nada

Blood, 2019-11, Vol.134 (Supplement_1), p.5776-5776 [Periódico revisado por pares]

Elsevier Inc

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10
Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant
Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant
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Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant

Alghamdi, Malak ; Monies, Dorota ; Alsohime, Fahad ; Temsah, Hani ; Almodaihsh, Fahad ; Aldawasri, Mana ; Alsultan, Abdulrahman ; Alkuraya, Fowzan S.

European journal of medical genetics, 2021-07, Vol.64 (7), p.104236-104236, Article 104236 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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