Search Results - Nadia Al Hashmi

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  1. 1

    A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population by Aaisha Al Balushi, Nooh Al Bakri, Nadia Al Hashmi

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  2. 2

    Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome by Mohamed S. Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani

    Published in International Journal of Nephrology (2015-01-01)
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  3. 3

    Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability by Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scott

    Published in Case Reports in Genetics (2018-01-01)
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  4. 4

    Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region by Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji

    Published in Orphanet Journal of Rare Diseases (2023-11-01)
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  5. 5

    Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region by Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji

    Published in Orphanet Journal of Rare Diseases (2022-10-01)
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  6. 6

    The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region by Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi

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  7. 7

    A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency by Khalid Al‐Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al‐Habsi, Eiman Al‐Ajmi, Fatma Al‐Jasmi, Fathiya Al‐Murshedi

    Published in JIMD Reports (2024-07-01)
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  8. 8

    Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination by Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi

    Published in JCRPE (2023-09-01)
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  9. 9

    WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children. by Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi

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  10. 10

    Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families by Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi

    Published in Orphanet Journal of Rare Diseases (2023-11-01)
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  11. 11

    Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome by Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John A. Sayer

    Published in Molecular Genetics & Genomic Medicine (2023-09-01)
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  12. 12

    Genotype‒phenotype correlation in recessive DNAJB4 myopathy by Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A. Genetti, Abdulrahman A. Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco, Almundher Al-Maawali, Nadia Al Hashmi, Ayşe Gül Zamani, Emine Göktaş, Sevgi Pekcan, Hanife Tuğçe Çağlar, Heather True, Alan H. Beggs, Conrad C. Weihl

    Published in Acta Neuropathologica Communications (2024-10-01)
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