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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459.
Brain. 2021.
PMID: 33764426
Free PMC article.
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D.
Averdunk L, et al. Among authors: alawam bs.
J Mol Med (Berl). 2021 Dec;99(12):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18.
J Mol Med (Berl). 2021.
PMID: 34536092
Free PMC article.
Review.
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D.
Averdunk L, et al. Among authors: alawam bs.
J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4.
J Mol Med (Berl). 2021.
PMID: 34661688
Free PMC article.
No abstract available.
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Genitourinary Tract Involvement in a Child with Epidermolysis Bullosa.
Al Moaigel HM, Al-Awam BS.
Al Moaigel HM, et al.
Saudi J Med Med Sci. 2016 Sep-Dec;4(3):218-221. doi: 10.4103/1658-631X.188249. Epub 2016 Aug 11.
Saudi J Med Med Sci. 2016.
PMID: 30787734
Free PMC article.
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Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report.
Bin Rubaian NF, Al-Awam BS, Aljohani SM, Almuhaidib SR.
Bin Rubaian NF, et al.
Clin Cosmet Investig Dermatol. 2024 Jan 3;17:13-16. doi: 10.2147/CCID.S438505. eCollection 2024.
Clin Cosmet Investig Dermatol. 2024.
PMID: 38193027
Free PMC article.
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Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.
Bin Rubaian NF, Al-Awam BS, Alluhaybi AH, Alsaati AA.
Bin Rubaian NF, et al.
Clin Cosmet Investig Dermatol. 2023 Dec 7;16:3527-3533. doi: 10.2147/CCID.S439288. eCollection 2023.
Clin Cosmet Investig Dermatol. 2023.
PMID: 38089015
Free PMC article.
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