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The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Am J Med Genet A. 2023 Jul;191(7):1783-1791. doi: 10.1002/ajmg.a.63202. Epub 2023 Apr 12.
Am J Med Genet A. 2023.
PMID: 37042183
Clinical characteristics of individual organ system disease in non-motile ciliopathies.
Grochowsky A, Gunay-Aygun M.
Grochowsky A, et al.
Transl Sci Rare Dis. 2019 Jul 4;4(1-2):1-23. doi: 10.3233/TRD-190033.
Transl Sci Rare Dis. 2019.
PMID: 31763176
Free PMC article.
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Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang C, Grochowsky A, Solomon BD, Yano ST.
Tekendo-Ngongang C, et al.
Genes (Basel). 2021 Oct 22;12(11):1669. doi: 10.3390/genes12111669.
Genes (Basel). 2021.
PMID: 34828275
Free PMC article.
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An ex vivo evaluation of efficacy of refrigerated canine plasma.
Grochowsky AR, Rozanski EA, de Laforcade AM, Sharp CR, Meola DM, Schavone JJ, Brooks MB.
Grochowsky AR, et al.
J Vet Emerg Crit Care (San Antonio). 2014 Jul-Aug;24(4):388-97. doi: 10.1111/vec.12202. Epub 2014 Jul 15.
J Vet Emerg Crit Care (San Antonio). 2014.
PMID: 25039603
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