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2014 1
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Page 1
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G, Al-Murshedi F, Al-Kindi A, Al-Hashimi N, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Al-Asmi A, Bruwer Z, Al-Kharusi K, Al-Rashdi S, Zadjali F, Al-Yahyaee S, Al-Maawali A. Al-Kasbi G, et al. Among authors: al murshedi f. Sci Rep. 2022 Nov 7;12(1):18862. doi: 10.1038/s41598-022-22036-z. Sci Rep. 2022. PMID: 36344539 Free PMC article.
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS. Al-Abdi L, et al. Among authors: al murshedi f. Hum Genet. 2020 May;139(5):615-622. doi: 10.1007/s00439-020-02144-4. Epub 2020 Mar 3. Hum Genet. 2020. PMID: 32128616
Immunoblot analysis suggests that this is a null allele in patient fibroblasts, which display abnormal F-actin organization. Our results suggest the establishment of a novel CNP-related hypomyelinating leukodystrophy in humans....
Immunoblot analysis suggests that this is a null allele in patient fibroblasts, which display abnormal F-actin organization. Our resu …
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Janecke AR, Liu X, Adam R, Punuru S, Viestenz A, Strauß V, Laass M, Sanchez E, Adachi R, Schatz MP, Saboo US, Mittal N, Rohrschneider K, Escher J, Ganesh A, Al Zuhaibi S, Al Murshedi F, AlSaleem B, Alfadhel M, Al Sinani S, Alkuraya FS, Huber LA, Müller T, Heidelberger R, Janz R. Janecke AR, et al. Among authors: al murshedi f. Hum Genet. 2021 Aug;140(8):1143-1156. doi: 10.1007/s00439-021-02284-1. Epub 2021 May 11. Hum Genet. 2021. PMID: 33974130 Free PMC article.
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.
Al-Thihli K, Al-Murshedi F, Al-Hashmi N, Al-Mamari W, Islam MM, Al-Yahyaee SA. Al-Thihli K, et al. Among authors: al murshedi f. Hum Hered. 2014;77(1-4):183-8. doi: 10.1159/000362686. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060282 Free article.
The parents of 5 patients (2%) were related as double first cousins, and 2 patients (1%) were born to first cousins once removed. The average coefficient of inbreeding (F) in our study was 0.081. Seventeen patients (6%) had associated comorbid conditions other than IEM. .. …
The parents of 5 patients (2%) were related as double first cousins, and 2 patients (1%) were born to first cousins once removed. The averag …