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Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
J Bone Miner Res. 2022 Feb;37(2):202-214. doi: 10.1002/jbmr.4454. Epub 2021 Nov 10.
J Bone Miner Res. 2022.
PMID: 34633109
Free PMC article.
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y.
Sarafrazi S, et al. Among authors: ramesan p.
Hum Mutat. 2022 Feb;43(2):143-157. doi: 10.1002/humu.24296. Epub 2021 Dec 5.
Hum Mutat. 2022.
PMID: 34806794
Free PMC article.
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Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus.
Dahir K, Dhaliwal R, Simmons J, Imel EA, Gottesman GS, Mahan JD, Prakasam G, Hoch AI, Ramesan P, Díaz-González de Ferris M.
Dahir K, et al. Among authors: ramesan p.
J Clin Endocrinol Metab. 2022 Feb 17;107(3):599-613. doi: 10.1210/clinem/dgab796.
J Clin Endocrinol Metab. 2022.
PMID: 34741521
Free PMC article.
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