Candida albicans Hap43 Domains Are Required under Iron Starvation but Not Excess

por Skrahina, Volha, Brock, Matthias, Hube, Bernhard, Brunke, Sascha
Publicado 2017

Metals in fungal virulence

por Gerwien, Franziska, Skrahina, Volha, Kasper, Lydia, Hube, Bernhard, Brunke, Sascha
Publicado 2017

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report

por Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Lentze, Michael J., Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt
Publicado 2022

Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing

por Kumar, Abhishek, Skrahina, Volha, Atta, Joshua, Boettcher, Veronika, Hanig, Nicola, Rolfs, Arndt, Oprea, Gabriela, Ameziane, Najim
Publicado 2023

HAE patient self-sampling for biomarker establishment

por Förster, Toni M., Magerl, Markus, Maurer, Marcus, Zülbahar, Selen, Zielke, Susanne, Inhaber, Neil, Crocetta, Donatello, Rolfs, Arndt, Skrahina, Volha
Publicado 2021

Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease

por Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Rtskhiladze, Irakli, Zaalishvili, Zurab, Nakaidze, Nata, Lentze, Michael J, Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt
Publicado 2023

Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease

por Dinur, Tama, Bauer, Peter, Beetz, Christian, Cozma, Claudia, Becker-Cohen, Michal, Istaiti, Majdolen, Rolfs, Arndt, Skrahina, Volha, Zimran, Ari, Revel-Vilk, Shoshana
Publicado 2023

Secondary findings in a large Pakistani cohort tested with whole genome sequencing

por Skrahin, Aliaksandr, Cheema, Huma Arshad, Hussain, Maqbool, Rana, Nuzhat Noureen, Rehman, Khalil Ur, Kumar, Raman, Oprea, Gabriela, Ameziane, Najim, Rolfs, Arndt, Skrahina, Volha
Publicado 2023

A case of probable Parkinson's disease after SARS-CoV-2 infection

por Cohen, Mikhal E, Eichel, Roni, Steiner-Birmanns, Bettina, Janah, Amir, Ioshpa, Maxim, Bar-Shalom, Rachel, Paul, Jefri J, Gaber, Hanaa, Skrahina, Volha, Bornstein, Natan M, Yahalom, Gilad
Publicado 2020

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

por Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter
Publicado 2021

Biphasic zinc compartmentalisation in a human fungal pathogen

por Crawford, Aaron C., Lehtovirta-Morley, Laura E., Alamir, Omran, Niemiec, Maria J., Alawfi, Bader, Alsarraf, Mohammad, Skrahina, Volha, Costa, Anna C. B. P., Anderson, Andrew, Yellagunda, Sujan, Ballou, Elizabeth R., Hube, Bernhard, Urban, Constantin F., Wilson, Duncan
Publicado 2018

Rapid Large-Scale COVID-19 Testing during Shortages

por Beetz, Christian, Skrahina, Volha, Förster, Toni M., Gaber, Hanaa, Paul, Jefri J., Curado, Filipa, Rolfs, Arndt, Bauer, Peter, Schäfer, Stephan, Weckesser, Volkmar, Lieu, Vivi, Radefeldt, Mandy, Pöppel, Claudia, Krake, Susann, Kandaswamy, Krishna K., Bruesehafer, Katja, Vogel, Florian
Publicado 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

por Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Catarina, Hovakimyan, Marina, Patric, Irene Rosita Pia, Paknia, Omid, Ameziane, Najim, Cozma, Claudia, Bauer, Peter, Rolfs, Arndt
Publicado 2020

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

por Skrahina, Volha, Grittner, Ulrike, Beetz, Christian, Skripuletz, Thomas, Juenemann, Martin, Krämer, Heidrun H., Hahn, Katrin, Rieth, Andreas, Schaechinger, Volker, Patten, Monica, Tanislav, Christian, Achenbach, Stephan, Assmus, Birgit, Knebel, Fabian, Gingele, Stefan, Skrahin, Aliaksandr, Hartkamp, Jörg, Förster, Toni M., Roesner, Sabine, Pereira, Catarina, Rolfs, Arndt
Publicado 2021

The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings

por Skrahina, Volha, Gaber, Hanaa, Vollstedt, Eva‐Juliane, Förster, Toni M., Usnich, Tatiana, Curado, Filipa, Brüggemann, Norbert, Paul, Jefri, Bogdanovic, Xenia, Zülbahar, Selen, Olmedillas, Maria, Skobalj, Snezana, Ameziane, Najim, Bauer, Peter, Csoti, Ilona, Koleva‐Alazeh, Natalia, Grittner, Ulrike, Westenberger, Ana, Kasten, Meike, Beetz, Christian, Klein, Christine, Rolfs, Arndt
Publicado 2020

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

por Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt
Publicado 2023

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots

por Auer-Grumbach, Michaela, Rettl, Rene, Ablasser, Klemens, Agis, Hermine, Beetz, Christian, Duca, Franz, Gattermeier, Martin, Glaser, Franz, Hacker, Markus, Kain, Renate, Kaufmann, Birgit, Kovacs, Gabor G., Lampl, Christian, Ljevakovic, Neira, Nagele, Jutta, Pölzl, Gerhard, Quasthoff, Stefan, Raimann, Bernadette, Rauschka, Helmut, Reiter, Christian, Skrahina, Volha, Schuhfried, Othmar, Sunder-Plassmann, Raute, Verheyen, Nicolas D., Wanschitz, Julia, Weber, Thomas, Windhager, Reinhard, Wurm, Raphael, Zimprich, Friedrich, Löscher, Wolfgang N., Bonderman, Diana
Publicado 2020

LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

por Usnich, Tatiana, Vollstedt, Eva-Juliane, Schell, Nathalie, Skrahina, Volha, Bogdanovic, Xenia, Gaber, Hanaa, Förster, Toni M., Heuer, Andreas, Koleva-Alazeh, Natalia, Csoti, Ilona, Basak, Ayse Nazli, Ertan, Sibel, Genc, Gencer, Bauer, Peter, Lohmann, Katja, Grünewald, Anne, Schymanski, Emma L., Trinh, Joanne, Schaake, Susen, Berg, Daniela, Gruber, Doreen, Isaacson, Stuart H., Kühn, Andrea A., Mollenhauer, Brit, Pedrosa, David J., Reetz, Kathrin, Sammler, Esther M., Valente, Enza Maria, Valzania, Franco, Volkmann, Jens, Zittel, Simone, Brüggemann, Norbert, Kasten, Meike, Rolfs, Arndt, Klein, Christine
Publicado 2021