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Journal of Child Neurology|December 14, 2011
Propionic acidemia associated with visual hallucinationsTaghreed Shuaib, Nadia Al-Hashmi, Mohammad Ghaziuddin, et al.
Orphanet Journal of Rare Diseases|December 4, 2025
Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working groupMoeenaldeen AlSayed, Khalid Al Rasadi, Noura S AlDhaheri, et al.
Orphanet Journal of Rare Diseases|November 4, 2023
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf familiesMarwa Al Busaidi, Feda E Mohamed, Eiman Al-Ajmi, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Further phenotypic delineation of Alazami syndromeAbdulhamid Al-Hinai, Samiya Al-Hashmi, Anuradha Ganesh, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern originAmeera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, et al.
JIMD Reports|October 13, 2018
Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre ExperienceNaresh P Shanmugam, Joseph J Valamparampil, Mettu Srinivas Reddy, et al.
Clinical Genetics|November 16, 2020
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onsetKhalid Al-Thihli, Cassian Afting, Nadia Al-Hashmi, et al.
Pediatric Transplantation|September 2, 2023
Domino liver transplantation for maple syrup urine disease in children: A single-center case seriesVikram Kumar, Vipul Gautam, Shaleen Agarwal, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 4, 2011
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIIINamik Kaya, Hesham Aldhalaan, Banan Al-Younes, et al.
Molecular Genetics & Genomic Medicine|May 19, 2023
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndromeMohamed S Al Riyami, Intisar Al Alawi, Badria Al Gaithi, et al.
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