Publications by authors named "Nadia Al Hashmi"

Claim this Profile
O
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, Nadia Al Hashmi

Orphanet J Rare Dis· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A Genetti, Nadia Al Hashmi

Acta Neuropathol Commun· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A Genetti, Nadia Al Hashmi

Res Sq· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, Nadia Al Hashmi

J Pediatr Genet· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, Nadia Al Hashmi

Pediatr Transplant· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
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, Nadia Al Hashmi

Mol Genet Genomic Med· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
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, Nadia Al Hashmi

J Community Genet· June 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Meri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, Terhi Tapiainen, Pirjo Åström, Nadia Al Hashmi

J Allergy Clin Immunol· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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, Nadia Al Hashmi

Genet Med· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
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

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Propionic acidemia associated with visual hallucinations.
Taghreed Shuaib, Nadia Al-Hashmi, Mohammad Ghaziuddin, Eman Megdad, Dejene Abebe

J Child Neurol· June 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis