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Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
Clin Rheumatol. 2020 Nov;39(11):3511-3515. doi: 10.1007/s10067-020-05205-1. Epub 2020 Jun 6.
Clin Rheumatol. 2020.
PMID: 32506314
Review.
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D, Goljan E; Rapid Exome Consortium; Assoum M, Albreacan M, Binhumaid F, Subhani S, Boureggah A, Hashem M, Abdulwahab F, Abuyousef O, Temsah MH, Alsohime F, Kelaher J, Abouelhoda M, Meyer BF, Alkuraya FS.
Monies D, et al.
Genome Med. 2023 Jun 21;15(1):44. doi: 10.1186/s13073-023-01192-5.
Genome Med. 2023.
PMID: 37344829
Free PMC article.
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Intracranial calcifications, microcephaly, and seizure. If not congenital infection, what could it be?
Eyaid W, Al-Tassan RS, Al-Nouri DM.
Eyaid W, et al.
Neurosciences (Riyadh). 2012 Jul;17(3):248-52.
Neurosciences (Riyadh). 2012.
PMID: 22772931
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