Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Pušenjak, M."'
Autor:
Vodnjov N; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia., Toplišek J; Department of Cardiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Čuturilo G; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Jaklič H; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Teran N; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Višnjar T; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Škrjanec Pušenjak M; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Hodžić A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Miljanović O; Clinical Centre of Montenegro, Ljubljanska BB, Podgorica, Montenegro., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; European Reference Network for Rare, Low Prevalence, or Complex Diseases of the Heart (ERN GUARD-Heart).
Publikováno v:
PloS one [PLoS One] 2023 Dec 05; Vol. 18 (12), pp. e0294969. Date of Electronic Publication: 2023 Dec 05 (Print Publication: 2023).
Autor:
Nair D; Children's Hospital of Philadelphia, Philadephia, PA, USA., Li D; Children's Hospital of Philadelphia, Philadephia, PA, USA., Erdogan H; Children's Hospital of Philadelphia, Philadephia, PA, USA., Yoon A; Children's Hospital of Philadelphia, Philadephia, PA, USA., Harr MH; Children's Hospital of Philadelphia, Philadephia, PA, USA., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Škrjanec Pušenjak M; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, the Netherlands., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, the Netherlands., McWalter K; GeneDx, Gaithersburg, MD, USA., Sidhu A; University of Iowa, Iowa City, IA, USA., Saliganan S; Ambry Genetics, Aliso Viejo, CA, USA., Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Jacob A; Department of Genetic Medicine, Genetic Intelligence Laboratory, Weill Cornell Medicine in Qatar, Education City, Al Luqta St, Ar-Rayyan, Qatar., Pasquier J; Department of Genetic Medicine, Genetic Intelligence Laboratory, Weill Cornell Medicine in Qatar, Education City, Al Luqta St, Ar-Rayyan, Qatar., Arash R; Department of Genetic Medicine, Genetic Intelligence Laboratory, Weill Cornell Medicine in Qatar, Education City, Al Luqta St, Ar-Rayyan, Qatar., Kahrizi K; Genetics Research Center University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Ropers HH; Max Planck Institute for Molecular GeneticsIhnestr. 63-73, Berlin, Germany., Bhoj EJ; Children's Hospital of Philadelphia, Philadephia, PA, USA.
Publikováno v:
HGG advances [HGG Adv] 2021 Jan 21; Vol. 2 (2), pp. 100024. Date of Electronic Publication: 2021 Jan 21 (Print Publication: 2021).
Autor:
Hohenwallner, D., Saulnier, G.M., Castaings, W., Astengo, A., Brencic, M., Bruno, M.C., Carolli, M., Chenut, J., De Bona, A., Doering, M., Dutto, E., Freundl, G., Harum, T., Holzeis, F., Jamsek, A., Klemencic Kosi, S., Kopeinig, C., Kozel, R., Klug, H., Lascours, S., Maiolini, B., Mignone, N., Neuwirth, J., Paccard, P., Pascariello, A., Pergher, P., Poltnig, W., Pušenjak, M., Rampazzo, R., Reszler, C., Robinson, C., Rollando, A., Rosso, M., Salvaro, M., Schlamberger, J., Scussel, R., Siligardi, M., Suette, G., Valentar, V., Varolo, E., Vecellio, C., Wagner, K., Zadravec, D., Zalavari, P., Zessar, H., Zolezzi, G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3669::012aed60a055c9324f93d8a5f56e59f8
http://hdl.handle.net/10449/21596
http://hdl.handle.net/10449/21596
Autor:
Hohenwallner, D., Saulnier, G.M., Brancelj, A., Bertoncelj, I., Brencic, M., Brun, A., Bruno, M.C., Cadoux Rivollet, M., Calvi, C., Carolli, M., Castaings, W., Chenut, J., De Bona, A., Defrancesco, C., Doering, M., Dutto, E., Freundl, G., Harum, T., Jamsek, A., Janetschek, H., Klemencic Kosi, S., Klug, H., Kozel, R., Kopeinig, C., Lachenal, P., Lascours, S., Leskosek, T., Maiolini, B., Mezek, T., Mignone, N., Mori, N., Mourembles, C., Neuwirth, J., Paccard, P., Pascariello, A., Pergher, P., Poltnig, W., Pušenjak, M., Rampazzo, R., Reszler, C., Robinson, C., Rollando, A., Salvaro, M., Schlamberger, J., Scussel, R., S. i. l. i. g. a. r. d. i. M., Suette, G., Valentar, V., Varolo, E., Vecellio, C., Wagner, K., Zadravec, D., Zalavari, P., Zessar, H., Zolezzi, G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3669::f476a63e632bfcc51a5f5f2f78289064
http://hdl.handle.net/10449/21597
http://hdl.handle.net/10449/21597
Akademický článek
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Autor:
KOROŠA, Anja1 anja.korosa@geo-zs.si, MALI, Nina1 nina.mali@geo-zs.si
Publikováno v:
Geologija (0016-7789). 2019, Vol. 62 Issue 2, p301-319. 19p.
Autor:
MALI, Nina1, KOROŠA, Anja1 anja.korosa@geo-zs.si
Publikováno v:
Geologija (0016-7789). 2015, Vol. 58 Issue 2, p183-194. 12p.
Publikováno v:
Journal of Hydrology & Hydromechanics / Vodohospodarsky Casopis; Mar2019, Vol. 67 Issue 1, p32-40, 9p
Autor:
Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.
Publikováno v:
Human Genetics and Genomics Advances, 3(4):100122. Cell Press
Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, M H, Bergant, G, Peterlin, B, Pušenjak, M Š, Jayakar, P, Pfundt, R, Jansen, S, McWalter, K, Sidhu, A, Saliganan, S, Agolini, E, Jacob, A, Pasquier, J, Arash, R, Kahrizi, K, Najmabadi, H, Ropers, H-H & Bhoj, E J 2022, ' Erratum : Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024)) ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100122 . https://doi.org/10.1016/j.xhgg.2022.100122
Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, M H, Bergant, G, Peterlin, B, Pušenjak, M Š, Jayakar, P, Pfundt, R, Jansen, S, McWalter, K, Sidhu, A, Saliganan, S, Agolini, E, Jacob, A, Pasquier, J, Arash, R, Kahrizi, K, Najmabadi, H, Ropers, H-H & Bhoj, E J 2022, ' Erratum : Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 (Human Genetics and Genomics Advances (2021) 2(2), (S2666247721000051), (10.1016/j.xhgg.2021.100024)) ', Human Genetics and Genomics Advances, vol. 3, no. 4, 100122 . https://doi.org/10.1016/j.xhgg.2022.100122
(Human Genetics and Genomics Advances 2, 100024; April 8, 2021) Patients 3-1 and 3-2 (siblings) were tested at GeneDx. They were compound heterozygous for p.Arg1472Glu and c.3434del p.Lys1145fs∗7. However c.3434del p.Lys1145fs∗7 was noted as p.Le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1c9b1d9e64915d2b2faf7bde0da5457b
https://research.vumc.nl/en/publications/d1081a11-50ae-4e00-89a7-db8f8dfe0bee
https://research.vumc.nl/en/publications/d1081a11-50ae-4e00-89a7-db8f8dfe0bee
Autor:
Podgoršek, Jože
Publikováno v:
Journal of Universal Excellence (JUE) / Revija za Univerzalno Odličnost (RUO); Sep2016, Vol. 5 Issue 3, p203-221, 19p