Publications by authors named "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.
Moeenaldeen AlSayed, Khalid Al Rasadi, Noura S AlDhaheri, Abdulrahman Al-Hussaini, Ali Awaji

Orphanet J Rare Dis· December 2025

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Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A Genetti

Acta Neuropathol Commun· October 2024

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Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A Genetti

Res Sq· October 2024

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Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.
Aaisha Al Balushi, Mariya Al Hinai, Alya Al Hosni, Fatima Al Amrani, Ashwaq Al Maimani

J Pediatr Genet· September 2024

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A founder mutation in causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Khalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al-Habsi, Eiman Al-Ajmi

JIMD Rep· July 2024

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LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.
Tariq Al Jabry, Nadia Al-Hashmi, Basem Abdelhadi, Almundher Al-Maawali

Eur J Med Genet· February 2024

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Domino liver transplantation for maple syrup urine disease in children: A single-center case series.
Vikram Kumar, Vipul Gautam, Shaleen Agarwal, Vijaykant Pandey, Sumit Goyal

Pediatr Transplant· December 2023

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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Marwa Al Busaidi, Feda E Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli

Orphanet J Rare Dis· November 2023

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

Orphanet J Rare Dis· November 2023

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Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Mohamed S Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani

Mol Genet Genomic Med· September 2023

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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Azza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Nadia Al-Hashmi

J Clin Res Pediatr Endocrinol· August 2023

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

Orphanet J Rare Dis· October 2022

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Further phenotypic delineation of Alazami syndrome.
Abdulhamid Al-Hinai, Samiya Al-Hashmi, Anuradha Ganesh, Nadia Al-Hashmi, Abeer Al-Saegh

Am J Med Genet A· August 2022

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Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
Zandré Bruwer, Salwa Al Ubaidani, Khalsa Al Kharusi, Fathiya Al Murshedi, Almundher Al-Maawali

J Community Genet· June 2022

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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Meri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, Terhi Tapiainen, Pirjo Åström

J Allergy Clin Immunol· August 2021

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Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Aida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, Natalia Ordonez-Herrera, Kornelia Tripolszki

Genet Med· August 2021

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Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Khalid Al-Thihli, Cassian Afting, Nadia Al-Hashmi, Mohammed Mohammed, Svenja Sliwinski

Clin Genet· March 2021

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Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Mohammed Mohammed, Nadia Al-Hashmi, Samiya Al-Rashdi, Nashat Al-Sukaiti, Kawther Al-Adawi

Eur J Med Genet· November 2019

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Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Ameera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, Ruqaiah Altassan, Mariam Almureikhi, Nadia Al-Hashmi

Am J Med Genet A· December 2018

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Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.
Naresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, Khoula Julenda Al Said, Khalid Al-Thihli, Nadia Al-Hashmi

JIMD Rep· October 2018

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

Case Rep Genet· October 2018

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Primary hyperoxaluria type 1 in 18 children: genotyping and outcome.
Mohamed S Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani

Int J Nephrol· April 2015

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Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.
Khalid Al-Thihli, Fathiya Al-Murshedi, Nadia Al-Hashmi, Watfa Al-Mamari, M Mazharul Islam

Hum Hered· March 2015

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Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
Nadia Al-Hashmi, Faiqa Imtiaz, Khushnooda Ramzan, Maha Faden, Taghreed Shuaib

Clin Dysmorphol· January 2013

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Propionic acidemia associated with visual hallucinations.
Taghreed Shuaib, Nadia Al-Hashmi, Mohammad Ghaziuddin, Eman Megdad, Dejene Abebe

J Child Neurol· June 2012

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