Items where Author is "Zweier, Markus"
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Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza
ORCID: 0000-0002-1497-0564
and Rauch, Anita
(2019)
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genetics in Medicine, 21 (9).
pp. 2043-2058.
ISSN 1098-3600 (Print), 1530-0366 (Online)
(doi:https://doi.org/10.1038/s41436-019-0464-7)
Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Sticht, Heinrich, Zeilhofer, Hanns Ulrich and Rauch, Anita
(2019)
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.
Molecular Medicine, 25 (1).
ISSN 1076-1551 (Print), 1528-3658 (Online)
(doi:https://doi.org/10.1186/s10020-019-0073-6)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Strauss, Justin E, Zenker, Martin, Beuing, Oliver
ORCID: 0000-0001-8033-063X
, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B
ORCID: 0000-0001-6099-7066
, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114
, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2018)
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
European Journal of Human Genetics, 26 (2).
pp. 197-209.
ISSN 1018-4813 (Print), 1476-5438 (Online)
(doi:https://doi.org/10.1038/s41431-017-0019-9)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich
ORCID: 0000-0001-5644-045X
, Steindl, Katharina and Rauch, Anita
(2017)
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
European Journal of Medical Genetics, 60 (9).
pp. 451-464.
ISSN 1769-7212
(doi:https://doi.org/10.1016/j.ejmg.2017.06.004)