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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Among authors: hoehndorf r. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.
Usage of cell nomenclature in biomedical literature.
Kafkas Ş, Sarntivijai S, Hoehndorf R. Kafkas Ş, et al. Among authors: hoehndorf r. BMC Bioinformatics. 2017 Dec 21;18(Suppl 17):561. doi: 10.1186/s12859-017-1978-0. BMC Bioinformatics. 2017. PMID: 29322912 Free PMC article.
DDIEM: drug database for inborn errors of metabolism.
Abdelhakim M, McMurray E, Syed AR, Kafkas S, Kamau AA, Schofield PN, Hoehndorf R. Abdelhakim M, et al. Among authors: hoehndorf r. Orphanet J Rare Dis. 2020 Jun 11;15(1):146. doi: 10.1186/s13023-020-01428-2. Orphanet J Rare Dis. 2020. PMID: 32527280 Free PMC article.
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A, Alsubaie L, Aloraini T, Alaskar A, Althagafi A, Alahmad A, Rashid M, Alswaid A, Alothaim A, Eyaid W, Ababneh F, Albalwi M, Alotaibi R, Almutairi M, Altharawi N, Alsamer A, Abdelhakim M, Kafkas S, Mineta K, Cheung N, Abdallah AM, Büchmann-Møller S, Fukasawa Y, Zhao X, Rajan I, Hoehndorf R, Al Mutairi F, Gojobori T, Alfadhel M. Alfares A, et al. Among authors: hoehndorf r. BMC Med Genomics. 2020 Jul 17;13(1):103. doi: 10.1186/s12920-020-00743-8. BMC Med Genomics. 2020. PMID: 32680510 Free PMC article.
126 results