Søgeresultater - Nadia Al Hashmi

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

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

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

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

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

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

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

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

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WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children. af 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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Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group af Moeenaldeen AlSayed, Khalid Al Rasadi, Noura S. AlDhaheri, Abdulrahman Al-Hussaini, Ali Awaji, Amal Al Tenaiji, Khalid Ibrahim Bzeizi, Mohamad Miqdady, Nadia Al Hashmi, Majid Alfadhel

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

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

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Genotype‒phenotype correlation in recessive DNAJB4 myopathy af 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

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