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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 1.
Am J Med Genet A. 2021.
PMID: 34467644
Free PMC article.
Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.
Lekka DE, Brucknerova J, Salingova A, Sebova C, Ostrozlikova M, Ziburova J, Nemcovic M, Sestak S, Bellova J, Pakanova Z, Sivakova B, Skoknova M, Bzduch V, Mucha J, Barath P, Brucknerova I.
Lekka DE, et al. Among authors: skoknova m.
Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030.
Bratisl Lek Listy. 2021.
PMID: 33618527
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[Historical aspects of the Smith-Lemli-Opitz syndrome].
Bzdúch V, Behúlová D, Skodová J, Skokňová M, Kozák L.
Bzdúch V, et al. Among authors: skoknova m.
Cas Lek Cesk. 2014;153(1):36-9.
Cas Lek Cesk. 2014.
PMID: 24506692
Czech.
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Salivary sex hormones during the menstrual cycle.
Celec P, Ostaniková D, Skoknová M, Hodosy J, Putz Z, Kúdela M.
Celec P, et al. Among authors: skoknova m.
Endocr J. 2009;56(3):521-3. doi: 10.1507/endocrj.k09e-020. Epub 2009 Feb 4.
Endocr J. 2009.
PMID: 19194049
Free article.
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