Search Results - Al-Kurbi, Alya A.

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  1. 1
    Burden of Mendelian disorders in a large Middle Eastern biobank

    Burden of Mendelian disorders in a large Middle Eastern biobank by Aamer, Waleed, Al-Maraghi, Aljazi, Syed, Najeeb, Gandhi, Geethanjali Devadoss, Aliyev, Elbay, Al-Kurbi, Alya A, Al-Saei, Omayma, Kohailan, Muhammad, Krishnamoorthy, Navaneethakrishnan, Palaniswamy, Sasirekha, Al-Malki, Khulod, Abbasi, Saleha, Agrebi, Nourhen, Abbaszadeh, Fatemeh, Akil, Ammira S Al-Shabeeb, Badii, Ramin, Ben-Omran, Tawfeg, Lo, Bernice, Mokrab, Younes, Fakhro, Khalid A

    Published in Genome medicine
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  2. 2
    A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay

    A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay by Al-Kurbi, Alya A., Da'as, Sahar Isa, Aamer, Waleed, Krishnamoorthy, Navaneethakrishnan, Poggiolini, Ilaria, Abdelrahman, Doua, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Glass, Graeme E., Fakhro, Khalid A.

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  3. 3
    A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes

    A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes by Al-Kurbi, Alya A, Aliyev, Elbay, AlSa'afin, Sana, Aamer, Waleed, Palaniswamy, Sasirekha, Al-Maraghi, Aljazi, Kilani, Houda, Akil, Ammira Al-Shabeeb, Stotland, Mitchell A, Fakhro, Khalid A

    Published in Genes
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  4. 4
    A Complex Intrachromosomal Rearrangement Disrupting IIRF6/I in a Family with Popliteal Pterygium and Van der Woude Syndromes

    A Complex Intrachromosomal Rearrangement Disrupting IIRF6/I in a Family with Popliteal Pterygium and Van der Woude Syndromes by Al-Kurbi, Alya A, Aliyev, Elbay, AlSa’afin, Sana, Aamer, Waleed, Palaniswamy, Sasirekha, Al-Maraghi, Aljazi, Kilani, Houda, Akil, Ammira Al-Shabeeb, Stotland, Mitchell A, Fakhro, Khalid A

    Published in Genes
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  5. 5
    A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes

    A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes by Al-Kurbi, Alya A, Aliyev, Elbay, AlSa'afin, Sana, Aamer, Waleed, Palaniswamy, Sasirekha, Al-Maraghi, Aljazi, Kilani, Houda, Akil, Ammira Al-Shabeeb, Stotland, Mitchell A, Fakhro, Khalid A

    Published in Genes
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  6. 6
    PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

    PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development by Da'as, Sahar I, Aamer, Waleed, Hasan, Waseem, Al-Maraghi, Aljazi, Al-Kurbi, Alya, Kilani, Houda, AlRayahi, Jehan, Zamel, Khaled, Stotland, Mitchell A, Fakhro, Khalid A

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  7. 7
    Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes

    Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes by Akil, Ammira-Sarah Al-Shabeeb, Jerman, Laila F, Yassin, Esraa, Padmajeya, Sujitha S, Al-Kurbi, Alya, Fakhro, Khalid A

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