Zobrazeno 1 - 10
of 1 215
pro vyhledávání: '"2716 Genetics (clinical)"'
Publikováno v:
Journal of Inherited Metabolic Disease. 46:406-420
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215920d68b72da893a90c0ba39c19abc
https://doi.org/10.1002/jimd.12593
https://doi.org/10.1002/jimd.12593
Autor:
Paula Robles-Bolivar, David Bächinger, Alberto M. Parra-Perez, Pablo Román-Naranjo, Alba Escalera-Balsera, Alvaro Gallego-Martinez, Andreas H. Eckhard, Jose A. Lopez-Escamez
Publikováno v:
European Journal of Human Genetics. 30:1301-1305
Low-frequency sensorineural hearing loss (SNHL) is a rare hearing impairment affecting frequencies below 1000 Hz, previously associated with DIAPH1, WSF1, MYO7A, TNC, SLC26A4 or CCDC50 genes. By exome sequencing, we report a novel nonsense variant in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2272b9098dcb2982b727a921d073c2da
https://doi.org/10.1038/s41431-022-01184-w
https://doi.org/10.1038/s41431-022-01184-w
Autor:
Zanoni, Paolo, Steindl, Katharina, Sticht, Heinrich, Oneda, Beatrice, Joset, Pascal, Ivanovski, Ivan, Horn, Anselm H C, Cabello, Elena María, Laube, Julia, Zweier, Markus, Baumer, Alessandra, Rauch, Anita, Khan, Nadia
Publikováno v:
European Journal of Human Genetics, 31 (7)
Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive arteriopathy that represents a leading cause of transient ischemic attacks and strokes in childhood. Despite this, up to now no large, exclusively pediatric MMA cohort has be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a5ad316c3148626fbb3245d9661223f
https://doi.org/10.5167/uzh-232786
https://doi.org/10.5167/uzh-232786
Autor:
Danielle Shlesinger, Kai-Lin Hong, Ghazal Shammas, Nicolas Page, Ioana Sandu, Andreas Agrafiotis, Victor Kreiner, Nicolas Fonta, Ilena Vincenti, Ingrid Wagner, Margot Piccinno, Alexandre Mariotte, Bogna Klimek, Raphael Dizerens, Marcos Manero-Carranza, Raphael Kuhn, Roy Ehling, Lester Frei, Keywan Khodaverdi, Camilla Panetti, Nicole Joller, Annette Oxenius, Doron Merkler, Sai T. Reddy, Alexander Yermanos
Publikováno v:
Genes and Immunity, 23
Adaptive immune repertoires are composed by the ensemble of B and T-cell receptors within an individual, reflecting both past and current immune responses. Recent advances in single-cell sequencing enable recovery of the complete adaptive immune rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd78ebfdf3c1a41bac0cd5529f218e5
https://doi.org/10.1038/s41435-022-00180-w
https://doi.org/10.1038/s41435-022-00180-w
Autor:
Ulrike Mütze, Florian Gleich, Sven F. Garbade, Céline Plisson, Luis Aldámiz‐Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R. Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi‐Vici, Pavel Ješina, Henk J. Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A. M. Morris, Helen Mundy, Isabelle Redonnet‐Vernhet, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease, 45(4), 719-733. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b856ecf57728c53d7cca9c359d9feb
https://doi.org/10.1002/jimd.12499
https://doi.org/10.1002/jimd.12499
Adipose tissue presents a comparably easy source for obtaining stem cells, and more studies are increasingly investigating the therapeutic potential of adipose-derived stem cells. Wound healing, especially in chronic wounds, and treatment of skin dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5cb616e079f46ec882562dbdc218f7
https://www.zora.uzh.ch/id/eprint/221936/
https://www.zora.uzh.ch/id/eprint/221936/
Autor:
Kocher, Agnes, Simon, Michael, Dwyer, Andrew A, Blatter, Catherine, Bogdanovic, Jasmina, Künzler-Heule, Patrizia, Villiger, Peter M, Dan, Diana, Distler, Oliver, Walker, Ulrich A, Nicca, Dunja
Publikováno v:
Kocher, Agnes; Simon, Michael; Dwyer, Andrew A; Blatter, Catherine; Bogdanovic, Jasmina; Künzler-Heule, Patrizia; Villiger, Peter M; Dan, Diana; Distler, Oliver; Walker, Ulrich A; Nicca, Dunja (2023). Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study. Orphanet journal of rare diseases, 18(1), p. 7. BioMed Central 10.1186/s13023-022-02604-2
Background The Chronic Care Model (CCM) is a longstanding and widely adopted model guiding chronic illness management. Little is known about how CCM elements are implemented in rare disease care or how patients’ care experiences relate to health-re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85bd5e7641bb762dbe51b8a3da1e48e4
https://doi.org/10.5167/uzh-226119
https://doi.org/10.5167/uzh-226119