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Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Published in:
Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01878-w
By:
- Inoue, Michio;
- Jayaraman, Divya;
- Bengoechea, Rocio;
- Bhadra, Ankan;
- Genetti, Casie A.;
- Aldeeri, Abdulrahman A.;
- Turan, Betül;
- Pacheco-Orozco, Rafael Adrian;
- Al-Maawali, Almundher;
- Al Hashmi, Nadia;
- Zamani, Ayşe Gül;
- Göktaş, Emine;
- Pekcan, Sevgi;
- Çağlar, Hanife Tuğçe;
- True, Heather;
- Beggs, Alan H.;
- Weihl, Conrad C.
Publication type:
Article
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02967-0
By:
- Al-Hassnan, Zuhair;
- Al Hashmi, Nadia;
- Makhseed, Nawal;
- Omran, Tawfeg Ben;
- Al Jasmi, Fatma;
- Al Teneiji, Amal
Publication type:
Article
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02946-5
By:
- Al Busaidi, Marwa;
- Mohamed, Feda E.;
- Al-Ajmi, Eiman;
- Al Hashmi, Nadia;
- Al-Thihli, Khalid;
- Al Futaisi, Amna;
- Al Mamari, Watfa;
- Al-Murshedi, Fathiya;
- Al-Jasmi, Fatma
Publication type:
Article
Domino liver transplantation for maple syrup urine disease in children: A single‐center case series.
Published in:
Pediatric Transplantation, 2023, v. 27, n. 8, p. 1, doi. 10.1111/petr.14603
By:
- Kumar, Vikram;
- Gautam, Vipul;
- Agarwal, Shaleen;
- Pandey, Vijaykant;
- Goyal, Sumit;
- Nasa, Vaibhav;
- Singh, Shweta A.;
- Al‐Thihli, Khalid;
- Al‐Murshedi, Fathiya;
- Al Hashmi, Nadia;
- Al Rawahi, Yusriya;
- Al‐Bahlani, Al‐Qasim;
- Al Said, Khoula;
- Gupta, Subhash
Publication type:
Article
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2201
By:
- Al Riyami, Mohamed S.;
- Al Alawi, Intisar;
- Al Gaithi, Badria;
- Al Maskari, Anisa;
- Al Kalbani, Naifain;
- Al Hashmi, Nadia;
- Al Balushi, Aisha;
- Al Shahi, Maryam;
- Al Saidi, Suliman;
- Al Bimani, Muna;
- Al Hatali, Fahad;
- Mabillard, Holly;
- Sayer, John A.
Publication type:
Article
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
Published in:
Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6737938
By:
- Al-Hashmi, Nadia;
- Mohammed, Mohammed;
- Al-Kathir, Salim;
- Al-Yarubi, Naeema;
- Scott, Patrick
Publication type:
Article
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Published in:
2022
By:
- Hassnan, Zuhair Al;
- Hashmi, Nadia Al;
- Makhseed, Nawal;
- Omran, Tawfeg Ben;
- Al Jasmi, Fatma;
- Teneiji, Amal Al
Publication type:
journal article
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 226, doi. 10.1002/jmd2.12426
By:
- Al‐Thihli, Khalid;
- Al Hashmi, Nadia;
- Al Balushi, Aaisha;
- Al‐Habsi, Asila;
- Al‐Ajmi, Eiman;
- Al‐Jasmi, Fatma;
- Al‐Murshedi, Fathiya
Publication type:
Article
Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome.
Published in:
International Journal of Nephrology, 2015, v. 2015, p. 1, doi. 10.1155/2015/634175
By:
- Al Riyami, Mohamed S.;
- Al Ghaithi, Badria;
- Al Hashmi, Nadia;
- Al Kalbani, Naifain
Publication type:
Article
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Published in:
Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 302, doi. 10.4274/jcrpe.galenos.2021.2021.0173
By:
- Al Shidhani, Azza;
- Al Hinai, Abdulhamid;
- Al Thihli, Khalid;
- Al Mandhari, Hilal;
- Al Yaarubi, Saif;
- Ullah, Irfan;
- Al-Hashmi, Nadia;
- Al Murshedi, Fathiya
Publication type:
Article
Further phenotypic delineation of Alazami syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2485, doi. 10.1002/ajmg.a.62778
By:
- Al‐Hinai, Abdulhamid;
- Al‐Hashmi, Samiya;
- Ganesh, Anuradha;
- Al‐Hashmi, Nadia;
- Al‐Saegh, Abeer;
- Al‐Mamari, Watfa;
- Al‐Murshedi, Fathiya;
- Al‐Thihli, Khalid;
- Al‐Kindi, Adila;
- Al‐Maawali, Almundher
Publication type:
Article
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2850, doi. 10.1002/ajmg.a.40627
By:
- Balobaid, Ameera;
- Ben‐Omran, Tawfeg;
- Ramzan, Khushnooda;
- Altassan, Ruqaiah;
- Almureikhi, Mariam;
- Musa, Sara;
- Al‐Hashmi, Nadia;
- Al‐Owain, Mohammed;
- Al‐Zaidan, Hamad;
- Al‐Hassnan, Zuhair;
- Imtiaz, Faiqa;
- Al‐Sayed, Moeenaldeen
Publication type:
Article
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1448, doi. 10.1002/ajmg.a.34025
By:
- Shaheen, Ranad;
- Al-Owain, Mohammed;
- Faqeih, Eissa;
- Al-Hashmi, Nadia;
- Awaji, Ali;
- Al-Zayed, Zayed;
- Alkuraya, Fowzan S
Publication type:
Article
Propionic Acidemia Associated With Visual Hallucinations.
Published in:
Journal of Child Neurology, 2012, v. 27, n. 6, p. 799, doi. 10.1177/0883073811426929
By:
- Shuaib, Taghreed;
- Al-Hashmi, Nadia;
- Ghaziuddin, Mohammad;
- Megdad, Eman;
- Abebe, Dejene;
- Al-Saif, Amr;
- Doubi, Alaa;
- Aldhalaan, Hesham;
- Abouzied, Mohei Eldin;
- Al-Owain, Mohammed
Publication type:
Article
Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study.
Published in:
Human Heredity, 2014, v. 77, n. 1-4, p. 183, doi. 10.1159/000362686
By:
- Al-Thihli, Khalid;
- Al-Murshedi, Fathiya;
- Al-Hashmi, Nadia;
- Al-Mamari, Watfa;
- Islam, M. Mazharul;
- Al-Yahyaee, Said A.
Publication type:
Article
WW domain-containing oxidoreductaserelated epileptic encephalopathy in two Omani children.
Published in:
Journal of Biochemical & Clinical Genetics, 2023, v. 6, n. 2, p. 133, doi. 10.24911/JBCGenetics/183-1696016763
By:
- Al-Lawati, Moosa;
- Al-Khaldi, Zuha;
- Chettali, Akbar Mohamed;
- Al-Hinai, Mariya;
- Al-Mazrooey, Hiba;
- Al-Ajmi, Ali;
- Al-Harasi, Salma;
- Al-Hashmi, Nadia
Publication type:
Article
Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 376, doi. 10.1111/cge.13883
By:
- Al‐Thihli, Khalid;
- Afting, Cassian;
- Al‐Hashmi, Nadia;
- Mohammed, Mohammed;
- Sliwinski, Svenja;
- Al Shibli, Naema;
- Al‐Said, Khoula;
- Al‐Kasbi, Ghalia;
- Al‐Kharusi, Khalsa;
- Merle, Uta;
- Füllekrug, Joachim;
- Al‐Maawali, Almundher
Publication type:
Article

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