Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Baumer Wolz, Alessandra"'
Autor:
Asadollahi, Reza, Delvendahl, Igor, Muff, Rebecca, Tan, Ge, Rodríguez, Daymé González, Turan, Soeren, Russo, Martina, Oneda, Beatrice, Joset, Pascal, Boonsawat, Paranchai, Masood, Rahim, Mocera, Martina, Ivanovski, Ivan, Baumer Wolz, Alessandra, Bachmann-Gagescu, Ruxandra, Schlapbach, Ralph, Rehrauer, Hubert, Steindl, Katharina, Begemann, Anaïs, Reis, André, Winkler, Jürgen, Winner, Beate, Müller, Martin, Rauch, Anita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8678f913c7e64637e05da3b367f4a18
Autor:
Boonsawat, Paranchai, Horn, Anselm H C, Steindl, Katharina, Baumer Wolz, Alessandra, Joset, Pascal, Kraemer, Dennis, Bahr, Angela, Ivanovski, Ivan, Cabello Ferrete, Elena, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Sirleto, Pietro, Burkhardt, Tilo, Sticht, Heinrich, Rauch, Anita
The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring is unknown. Since neurodevelopmental disorders (NDDs) in their offspring is a major concern of paren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffafc8a61be4b0a29240064440034536
https://www.zora.uzh.ch/id/eprint/219690/
https://www.zora.uzh.ch/id/eprint/219690/
Autor:
Begemann, Anaïs, Oneda, Beatrice, Baumer Wolz, Alessandra, Guldimann, Marina, Tutschek, Boris, Rauch, Anita
POLA1 encodes a subunit of the DNA polymerase alpha, a key enzyme for the initiation of DNA synthesis. In males, hemizygous hypomorphic variants in POLA1 have been identified as the cause of X-linked pigmentary reticulate disorder (XLPDR) and a novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b27a242d700f8a9f9777d9b5ff546a52
Autor:
Gogoll, Laura, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Baumer Wolz, Alessandra, Gerth-Kahlert, Christina, Tutschek, Boris, Rauch, Anita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::bb493675b08db460c111678bc8f5323a
https://www.zora.uzh.ch/id/eprint/203762/
https://www.zora.uzh.ch/id/eprint/203762/
Autor:
Schinzel, Albert, Kotzot, Dieter, Brecevic, Lukrecija, Robinson, Wendy P, Dutly, Fabrizio, Dauwerse, Hans, Binkert, Franz, Baumer Wolz, Alessandra, Ausserer, Bernd
A 2-year-old, short, microcephalic and developmentally retarded boy revealed a pattern of multiple minor anomalies, hypospadias and a dysplastic right kidney, Maternal age at delivery was 41 years. His karyotype showed two cell lines, one apparently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c7d70f166fa4a2a3ce39cb69292febb
Publikováno v:
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0dc95a3f0dc3d091f0986cdbf971fb3
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184742600011&KeyUID=WOS:000184742600011
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184742600011&KeyUID=WOS:000184742600011
Autor:
Albert Schinzel, Alessandra Baumer, Turgut Tukel, Mariluce Riegel, Damina Balmer, Fabrizio Dutly, Małgorzata Krajewska-Walasek
Interstitial chromosomal deletions at 22q11.2 and 7q11.23 are detected in the vast majority of patients affected by CATCH 22 syndromes and the Williams-Beuren syndrome, respectively. In a group of 15 Williams-Beuren patients, we have shown previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a14342add18c2f7f9ca9c44ff666266