Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir et autres
2 citationsThe American Journal of Human Genetics
Stanislav Kmoch
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296Publications signalées
7806Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Biochemical and Molecular ResearchRenal Diseases and GlomerulopathiesMetabolism and Genetic DisordersKidney Stones and Urolithiasis TreatmentsMitochondrial Function and Pathology
Publications récentes
Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease
Klára Svojšová, Kendrah Kidd, Dita Mušálková, Tereza Kmochová et autres
0 citationsmedRxiv
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics - Nasopharyngeal swab collection; Visualization of in silico HSF predictions and ATP7B Exon 8 skipping
Lenka Steiner Mrázková, Alena Čížková Vrbacká, Filip Majer, Viktor Stránecký et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics - Nasopharyngeal swab collection; Visualization of in silico HSF predictions and ATP7B Exon 8 skipping
Lenka Steiner Mrázková, Alena Čížková Vrbacká, Filip Majer, Viktor Stránecký et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis - SUPPLEMENTARY APPENDIX
Nelson Leung, Aleš Hnı́zda, Ellen D. McPhail, Surendra Dasari et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
A missense mutation in the SAA1 protein causing hereditary amyloid A amyloidosis - SUPPLEMENTARY APPENDIX
Nelson Leung, Aleš Hnı́zda, Ellen D. McPhail, Surendra Dasari et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity
Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce, Javier Alonso et autres
0 citationsNature Communications
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
Michelle Clince, Elhussein A. Elhassan, Kendrah Kidd, Emily Malamud et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
Michelle Clince, Elhussein A. Elhassan, Kendrah Kidd, Emily Malamud et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
Adeno-Associated Virus Co-Precipitation with Extracellular Vesicles for Genome Editing in Rodent Embryo
Petr Nickl, Maria Barbiera, Jacopo Zini, Tereza Nickl et autres
0 citationsResearch Square
Adeno-Associated Virus Co-Precipitation with Extracellular Vesicles for Genome Editing in Rodent Embryo
Petr Nickl, Maria Barbiera, Jacopo Zini, Tereza Nickl et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Thin Glomerular Basement Membrane Phenotypes With No Identified Pathogenic COL4A3/A4/A5 Variant
Cristian V. Riella, Dan A. Colombo, Helmut G. Rennke, Astrid Weins et autres
1 citationKidney International Reports
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