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Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Cell Rep Med. 2022 Jul 19;3(7):100670. doi: 10.1016/j.xcrm.2022.100670. Epub 2022 Jun 27.
Cell Rep Med. 2022.
PMID: 35764087
Free PMC article.
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac JP, Wiedemann A, Chery C, Ravel JM, Namour F, Guéant JL, Feillet F, Oussalah A.
Mergnac JP, et al.
Hum Genet. 2022 Jul;141(7):1269-1278. doi: 10.1007/s00439-021-02358-0. Epub 2021 Sep 8.
Hum Genet. 2022.
PMID: 34495415
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Evaluation of daily hydration in pediatric outpatients over 3 years old.
Mergnac JP, Desandes R, Gosselin J, Goldrey M, Thomas E, Thollot F.
Mergnac JP, et al.
Arch Pediatr. 2021 Apr;28(3):209-214. doi: 10.1016/j.arcped.2020.12.011. Epub 2021 Mar 4.
Arch Pediatr. 2021.
PMID: 33676769
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