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Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Clin Genet. 2024 Mar 29. doi: 10.1111/cge.14524. Online ahead of print.
Clin Genet. 2024.
PMID: 38553872
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR.
Patterson K, et al. Among authors: garczarczyk asim d.
Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14.
Am J Ophthalmol. 2024.
PMID: 37972748
Free article.
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Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant.
Vodopiutz J, Steurer LM, Haufler F, Laccone F, Garczarczyk-Asim D, Hilkenmeier M, Steinbauer P, Janecke AR.
Vodopiutz J, et al. Among authors: garczarczyk asim d.
Genes (Basel). 2023 Apr 7;14(4):877. doi: 10.3390/genes14040877.
Genes (Basel). 2023.
PMID: 37107635
Free PMC article.
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Further delineation of SLC9A3-related congenital sodium diarrhea.
Bogdanic E, Müller T, Heinz-Erian P, Garczarczyk-Asim D, Janecke AR, Rückel A.
Bogdanic E, et al. Among authors: garczarczyk asim d.
Mol Genet Genomic Med. 2022 Aug;10(8):e2000. doi: 10.1002/mgg3.2000. Epub 2022 Jun 30.
Mol Genet Genomic Med. 2022.
PMID: 35775128
Free PMC article.
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Development of an in vitro potency assay for human skeletal muscle derived cells.
Thurner M, Asim F, Garczarczyk-Asim D, Janke K, Deutsch M, Margreiter E, Troppmair J, Marksteiner R.
Thurner M, et al. Among authors: garczarczyk asim d.
PLoS One. 2018 Mar 22;13(3):e0194561. doi: 10.1371/journal.pone.0194561. eCollection 2018.
PLoS One. 2018.
PMID: 29566057
Free PMC article.
Clinical Trial.
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