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Page 1
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1.
Endocr Connect. 2022.
PMID: 36373817
Free PMC article.
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Akgun-Dogan O, Díaz-González F, de Lima Jorge AA, Onenli-Mungan N, Menezes Andrade NL, de Polli Cellin L, Ceylaner S, Barcellos Rosa Modkovski M, Alanay Y, Heath KE.
Akgun-Dogan O, et al. Among authors: menezes andrade nl.
Eur J Hum Genet. 2023 Oct 4. doi: 10.1038/s41431-023-01472-z. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 37789084
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