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The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18.
Clin Genet. 2019.
PMID: 30561787
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M.
Almannai M, et al. Among authors: sunbul r.
Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18.
Pediatr Neurol. 2019.
PMID: 30926181
Free article.
Review.
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Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS.
Shamseldin HE, et al.
Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0.
Genome Med. 2021.
PMID: 34645488
Free PMC article.
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Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
MENA Pompe Working Group; Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna'a N, Al-Sharif F, Bohlega S, Cupler EJ, Fathalla W, Hamdan MA, Makhseed N, Nafissi S, Nilipour Y, Selim L, Shembesh N, Sunbul R, Tonekaboni SH.
MENA Pompe Working Group, et al. Among authors: sunbul r.
BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3.
BMC Neurol. 2015.
PMID: 26471939
Free PMC article.
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Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen KLIV, Sunbul R, El-Hattab AW.
Benke PJ, et al. Among authors: sunbul r.
J Child Neurol. 2017 May;32(6):543-549. doi: 10.1177/0883073817690094. Epub 2017 Jan 31.
J Child Neurol. 2017.
PMID: 28135894
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