OpenURL Connection Search

Select item for more details and to access through your institution.

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
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Published in:
2022
By:
- Tábara, Luis Carlos;
- Al-Salmi, Fatema;
- Maroofian, Reza;
- Al-Futaisi, Amna Mohammed;
- Al-Murshedi, Fathiya;
- Kennedy, Joanna;
- Day, Jacob O;
- Courtin, Thomas;
- Al-Khayat, Aisha;
- Galedari, Hamid;
- Mazaheri, Neda;
- Protasoni, Margherita;
- Johnson, Mark;
- Leslie, Joseph S;
- Salter, Claire G;
- Rawlins, Lettie E;
- Fasham, James;
- Al-Maawali, Almundher;
- Voutsina, Nikol;
- Charles, Perrine
Publication type:
journal article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Published in:
2017
By:
- Ahmed, Mustafa Y.;
- Al-Khayat, Aisha;
- Al-Murshedi, Fathiya;
- Al-Futaisi, Amna;
- Chioza, Barry A.;
- Fernandez-Murray, J. Pedro;
- Self, Jay E.;
- Salter, Claire G.;
- Harlalka, Gaurav V.;
- Rawlins, Lettie E.;
- Al-Zuhaibi, Sana;
- Al-Azri, Faisal;
- Al-Rashdi, Fatma;
- Cazenave-Gassiot, Amaury;
- Wenk, Markus R.;
- Al-Salmi, Fatema;
- Patton, Michael A.;
- Silver, David L.;
- Baple, Emma L.;
- McMaster, Christopher R.
Publication type:
journal article
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Published in:
Human Genetics, 2021, v. 140, n. 8, p. 1143, doi. 10.1007/s00439-021-02284-1
By:
- Janecke, Andreas R.;
- Liu, Xiaoqin;
- Adam, Rüdiger;
- Punuru, Sumanth;
- Viestenz, Arne;
- Strauß, Valeria;
- Laass, Martin;
- Sanchez, Elizabeth;
- Adachi, Roberto;
- Schatz, Martha P.;
- Saboo, Ujwala S.;
- Mittal, Naveen;
- Rohrschneider, Klaus;
- Escher, Johanna;
- Ganesh, Anuradha;
- Al Zuhaibi, Sana;
- Al Murshedi, Fathiya;
- AlSaleem, Badr;
- Alfadhel, Majid;
- Al Sinani, Siham
Publication type:
Article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22036-z
By:
- Al-Kasbi, Ghalia;
- Al-Murshedi, Fathiya;
- Al-Kindi, Adila;
- Al-Hashimi, Nadia;
- Al-Thihli, Khalid;
- Al-Saegh, Abeer;
- Al-Futaisi, Amna;
- Al-Mamari, Watfa;
- Al-Asmi, Abdullah;
- Bruwer, Zandre;
- Al-Kharusi, Khalsa;
- Al-Rashdi, Samiya;
- Zadjali, Fahad;
- Al-Yahyaee, Said;
- Al-Maawali, Almundher
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
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Published in:
Journal of Perinatal Medicine, 2018, v. 46, n. 9, p. 968, doi. 10.1515/jpm-2017-0124
By:
- Bruwer, Zandrè;
- Al Riyami, Nihal;
- Al Dughaishi, Tamima;
- Al Murshedi, Fathiya;
- Al Sayegh, Abeer;
- Al Kindy, Adila;
- Meftah, Douja;
- Al Kharusi, Khalsa;
- Al Foori, Amel;
- Al Yarubi, Naeema;
- Scott, Patrick;
- Al-Thihli, Khalid
Publication type:
Article
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Published in:
Human Genetics, 2020, v. 139, n. 5, p. 615, doi. 10.1007/s00439-020-02144-4
By:
- Al-Abdi, Lama;
- Al Murshedi, Fathiya;
- Elmanzalawy, Alaa;
- Al Habsi, Asila;
- Helaby, Rana;
- Ganesh, Anuradha;
- Ibrahim, Niema;
- Patel, Nisha;
- Alkuraya, Fowzan S.
Publication type:
Article
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Published in:
2018
By:
- Anazi, Shams;
- Maddirevula, Sateesh;
- Salpietro, Vincenzo;
- Asi, Yasmine T.;
- Alsahli, Saud;
- Alhashem, Amal;
- Shamseldin, Hanan E.;
- AlZahrani, Fatema;
- Patel, Nisha;
- Ibrahim, Niema;
- Abdulwahab, Firdous M.;
- Hashem, Mais;
- Alhashmi, Nadia;
- Al Murshedi, Fathiya;
- Al Kindy, Adila;
- Alshaer, Ahmad;
- Rumayyan, Ahmed;
- Al Tala, Saeed;
- Kurdi, Wesam;
- Alsaman, Abdulaziz
Publication type:
Correction Notice
Expanding the genetic heterogeneity of intellectual disability.
Published in:
Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
By:
- Anazi, Shams;
- Maddirevula, Sateesh;
- Salpietro, Vincenzo;
- Asi, Yasmine;
- Alsahli, Saud;
- Alhashem, Amal;
- Shamseldin, Hanan;
- AlZahrani, Fatema;
- Patel, Nisha;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Alhashmi, Nadia;
- Al Murshedi, Fathiya;
- Al Kindy, Adila;
- Alshaer, Ahmad;
- Rumayyan, Ahmed;
- Al Tala, Saeed;
- Kurdi, Wesam;
- Alsaman, Abdulaziz
Publication type:
Article
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.
Published in:
Journal of Autism & Developmental Disorders, 2015, v. 45, n. 8, p. 2323, doi. 10.1007/s10803-015-2394-9
By:
- Al-Mamari, Watfa;
- Al-Saegh, Abeer;
- Al-Kindy, Adila;
- Bruwer, Zandre;
- Al-Murshedi, Fathiya;
- Al-Thihli, Khalid
Publication type:
Article
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112
By:
- Al-Maawali, Almundher;
- Dupuis, Lucie;
- Blaser, Susan;
- Heon, Elise;
- Tarnopolsky, Mark;
- Al-Murshedi, Fathiya;
- Marshall, Christian R;
- Paton, Tara;
- Scherer, Stephen W;
- Roelofsen, Jeroen;
- van Kuilenburg, André BP;
- Mendoza-Londono, Roberto
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
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
Transient response to high‐dose niacin therapy in a patient with NAXE deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 212, doi. 10.1002/jmd2.12425
By:
- Al‐Amrani, Fatema;
- Al‐Thihli, Khalid;
- Al‐Ajmi, Eiman;
- Al‐Futaisi, Amna;
- Al‐Murshedi, Fathiya
Publication type:
Article
Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.
Published in:
Sultan Qaboos University Medical Journal, 2021, v. 21, n. 2, p. e312, doi. 10.18295/squmj.2021.21.02.023
By:
- Al-Hinai, Abdulhamid;
- Al-Murshedi, Fathiya;
- Al-Nabhani, Dana;
- Al-Thihli, Khalid
Publication type:
Article
Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Published in:
Clinical Genetics, 2020, v. 98, n. 5, p. 520, doi. 10.1111/cge.13838
By:
- Al‐Murshedi, Fathiya;
- Mirza, Hassan;
- Al‐Saegh, Abeer;
- Al‐Nabhani, Maryam;
- Al‐Shabibi, Saud;
- Baawain, Saleh;
- Al‐Futaisi, Amna;
- Al‐Shehhi, Wafaa;
- Al‐Maawali, Almundher
Publication type:
Article
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 495, doi. 10.1111/cge.13438
By:
- Al‐Nabhani, Maryam;
- Al‐Rashdi, Samiya;
- Al‐Murshedi, Fathiya;
- Al‐Kindi, Adila;
- Al‐Thihli, Khalid;
- Al‐Saegh, Abeer;
- Al‐Futaisi, Amna;
- Al‐Mamari, Watfa;
- Zadjali, Fahad;
- Al‐Maawali, Almundher
Publication type:
Article
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 452, doi. 10.1007/s10875-022-01394-3
By:
- Al-Tamemi, Salem;
- Al-Zadjali, Shoaib;
- Bruwer, Zandre;
- Naseem, Shafiq-Ur-Rehman;
- Al-Siyabi, Nabila;
- ALRawahi, Mohammed;
- Alkharusi, Khalsa;
- Al-Thihli, Khalid;
- Al-Murshedi, Fathiya;
- AlSayegh, Abeer;
- Al-Maawali, Almundher;
- Dennison, David
Publication type:
Article
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 292, doi. 10.1002/jimd.12476
By:
- van Esveld, Selma L.;
- Rodenburg, Richard J.;
- Al‐Murshedi, Fathiya;
- Al‐Ajmi, Eiman;
- Al‐Zuhaibi, Sana;
- Huynen, Martijn A.;
- Spelbrink, Johannes N.
Publication type:
Article
Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort.
Published in:
Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 190, doi. 10.1159/000369804
By:
- Habeb, abdelhadi M.;
- Deeb, asma;
- Johnson, Matthew;
- abdullah, Mohammed;
- abdulrasoul, Majidah;
- al-awneh, Hussain;
- al-Maghamsi, Mohammed S.F.;
- al-Murshedi, Fathiya;
- al-Saif, Ramlah;
- al-Sinani, Siham;
- Ramadan, Dina;
- Tfayli, Hala;
- Flanagan, Sarah E.;
- Ellard, Sian
Publication type:
Article
Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.
Published in:
Oman Medical Journal, 2016, v. 31, n. 3, p. 227, doi. 10.5001/omj.2016.43
By:
- Scott, Patrick;
- Bruwer, Zandre;
- Al-Kharusi, Khalsa;
- Meftah, Douja;
- Al-Murshedi, Fathiya
Publication type:
Article
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 692, doi. 10.1002/humu.23210
By:
- Baertling, Fabian;
- Al‐Murshedi, Fathiya;
- Sánchez‐Caballero, Laura;
- Al‐Senaidi, Khalfan;
- Joshi, Niranjan P;
- Venselaar, Hanka;
- den Brand, Mariël AM;
- Nijtmans, Leo GJ;
- Rodenburg, Richard JT
Publication type:
Article
Encephalopathy mimicking non-convulsive status Epilepticus.
Published in:
2018
By:
- Nandhagopal, Ramachandiran;
- Al-Murshedi, Fathiya;
- Al-Busaidi, Mujahid;
- Al-Busaidi, Amna
Publication type:
Case Study
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
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
Guidelines for acute management of hyperammonemia in the Middle East region.
Published in:
2016
By:
- Alfadhel, Majid;
- Al Mutairi, Fuad;
- Makhseed, Nawal;
- Al Jasmi, Fatma;
- Al-Thihli, Khalid;
- Al-Jishi, Emtithal;
- Alsayed, Moeenaldeen;
- Al-Hassnan, Zuhair N.;
- Al-Murshedi, Fathiya;
- Häberle, Johannes;
- Ben-Omran, Tawfeg;
- Mutairi, Fuad Al;
- Jasmi, Fatma Al
Publication type:
journal article

Found: 27