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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030.
J Med Genet. 2024.
PMID: 37580113
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R.
Accogli A, et al. Among authors: sawyer lb.
Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13.
Genet Med. 2023.
PMID: 37454282
Free article.
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Identifying strategies early intervention occupational therapists use to teach caregivers.
Colyvas JL, Sawyer LB, Campbell PH.
Colyvas JL, et al. Among authors: sawyer lb.
Am J Occup Ther. 2010 Sep-Oct;64(5):776-85. doi: 10.5014/ajot.2010.09044.
Am J Occup Ther. 2010.
PMID: 21073108
Free article.
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