Search Results - Elbashir, Najwa

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  1. 1
    A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

    A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review by Al-Maraghi, Aljazi, Aamer, Waleed, Ziab, Mubarak, Aliyev, Elbay, Elbashir, Najwa, Hussein, Sura, Palaniswamy, Sasirekha, Anand, Dhullipala, Love, Donald R, Charles, Adrian, A S Akil, Ammira, Fakhro, Khalid A

    Published in BMC nephrology
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  2. 2
    Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

    Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Shaath, Rulan, Al-Maraghi, Aljazi, Ali, Haytham, AlRayahi, Jehan, Kennedy, Adam D, DeBalsi, Karen L, Hussein, Sura, Elbashir, Najwa, Padmajeya, Sujitha S, Palaniswamy, Sasirekha, Elsea, Sarah H, Akil, Ammira A, Yousri, Noha A, Fakhro, Khalid A

    Published in Metabolites
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  3. 3
    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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  4. 4
    A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

    A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report by Kohailan, Muhammad, Al-Saei, Omayma, Padmajeya, Sujitha, Aamer, Waleed, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Kamboh, Abdul-Rauf, Fakhro, Khalid

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  5. 5
    Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

    Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Shaath, Rulan, Al-Maraghi, Aljazi, Ali, Haytham, AlRayahi, Jehan, Kennedy, Adam D, DeBalsi, Karen L, Hussein, Sura, Elbashir, Najwa, Padmajeya, Sujitha S, Palaniswamy, Sasirekha, Elsea, Sarah H, Akil, Ammira A, Yousri, Noha A, Fakhro, Khalid A

    Published in Metabolites
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