Hasil Pencarian - Nadia Al-Hashmi

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  1. 1
    A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population

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

    Diterbitkan 2021-06-01
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  2. 2
    Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome

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

    Diterbitkan 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

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

    Diterbitkan 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

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

    Diterbitkan 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

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

    Diterbitkan 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

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

    Diterbitkan 2023-06-01
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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

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

    Diterbitkan 2024-07-01
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  8. 8
    Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

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

    Diterbitkan 2023-09-01
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  9. 9
    Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

    Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families oleh 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

    Diterbitkan 2023-11-01
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  10. 10
    Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome

    Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome oleh 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

    Diterbitkan 2023-09-01
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