Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Genes (Basel). 2023 Dec 3;14(12):2174. doi: 10.3390/genes14122174.
Genes (Basel). 2023.
PMID: 38136996
Free PMC article.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L.
Weis D, et al. Among authors: kusikova k.
J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882.
J Clin Invest. 2024.
PMID: 37943617
Free PMC article.
Item in Clipboard
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K, Feichtinger RG, Csillag B, Kalev OK, Weis S, Duba HC, Mayr JA, Weis D.
Kušíková K, et al.
Front Pediatr. 2021 Apr 16;9:660076. doi: 10.3389/fped.2021.660076. eCollection 2021.
Front Pediatr. 2021.
PMID: 33937156
Free PMC article.
Item in Clipboard
Paroxysmal extreme pain disorder: A very rare genetic aetiology of syncope with bizarre flushing in an infant.
Bjeloševič M, Kušíková K, Tomko J, Illíková V.
Bjeloševič M, et al. Among authors: kusikova k.
J Paediatr Child Health. 2021 Jun;57(6):938-940. doi: 10.1111/jpc.15072. Epub 2020 Sep 12.
J Paediatr Child Health. 2021.
PMID: 32918496
No abstract available.
Item in Clipboard
Cite
Cite