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Page 1
The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases-The Symptomatic Heterozygote Issue.
Genes (Basel). 2023 Jul 31;14(8):1562. doi: 10.3390/genes14081562.
Genes (Basel). 2023.
PMID: 37628614
Free PMC article.
Review.
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Purzycka-Olewiecka JK, Hetmańczyk-Sawicka K, Kmieć T, Szczęśniak D, Trubicka J, Krawczyński M, Pronicki M, Ługowska A.
Purzycka-Olewiecka JK, et al. Among authors: szczesniak d.
Metab Brain Dis. 2023 Feb;38(2):709-715. doi: 10.1007/s11011-022-01148-5. Epub 2022 Dec 28.
Metab Brain Dis. 2023.
PMID: 36576693
Free PMC article.
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The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency.
Kucińska-Chahwan A, Szczęśniak D, Nowakowska B, Roszkowski T.
Kucińska-Chahwan A, et al. Among authors: szczesniak d.
Taiwan J Obstet Gynecol. 2019 Jul;58(4):574-576. doi: 10.1016/j.tjog.2019.05.026.
Taiwan J Obstet Gynecol. 2019.
PMID: 31307755
Free article.
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Genetic polymorphisms and serum concentrations of adiponectin and resistin in anorexia nervosa and healthy controls - pilot study.
Ziora-Jakutowicz K, Zimowski J, Ziora KT, Oswiecimska JM, Swietochowska E, Gorczyca P, Bednarska-Makaruk M, Szczesniak D, Rybakowski F.
Ziora-Jakutowicz K, et al. Among authors: szczesniak d.
Neuro Endocrinol Lett. 2017 Jul;38(3):215-223.
Neuro Endocrinol Lett. 2017.
PMID: 28759190
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