Anzahl der Einträge: 5.
2021
Khuller, Katharina,
Yigit, Gökhan,
Martínez Grijalva, Carolina,
Altmüller, Janine,
Thiele, Holger,
Nürnberg, Peter,
Elcioglu, Nursel H.,
Yeter, Burcu,
Hehr, Ute,
Stein, Anja,
Della Marina, Adela,
Köninger, Angela,
Depienne, Christel,
Kaiser, Frank J.,
Wollnik, Bernd und
Kuechler, Alma
(2021)
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
European Journal of Medical Genetics 64 (10), S. 104310.
Volltext nicht vorhanden.
2020
Brock, Stefanie ![ORCID 0000-0002-4137-512X](/images/orcid_16x16.gif)
,
Vanderhasselt, Tim ![ORCID 0000-0002-0511-0554](/images/orcid_16x16.gif)
,
Vermaning, Sietske,
Keymolen, Kathelijn ![ORCID 0000-0002-7349-641X](/images/orcid_16x16.gif)
,
Régal, Luc ![ORCID 0000-0001-8231-5767](/images/orcid_16x16.gif)
,
Romaniello, Romina ![ORCID 0000-0002-8709-6732](/images/orcid_16x16.gif)
,
Wieczorek, Dagmar ![ORCID 0000-0003-2812-6492](/images/orcid_16x16.gif)
,
Storm, Tim Matthias,
Schaeferhoff, Karin,
Hehr, Ute,
Kuechler, Alma,
Krägeloh-Mann, Ingeborg,
Haack, Tobias B.,
Kasteleijn, Esmee,
Schot, Rachel,
Mancini, Grazia Maria Simonetta,
Webster, Richard,
Mohammad, Shekeeb ![ORCID 0000-0003-1219-4781](/images/orcid_16x16.gif)
,
Leventer, Richard J.,
Mirzaa, Ghayda,
Dobyns, William B. ![ORCID 0000-0002-7681-2844](/images/orcid_16x16.gif)
,
Bahi-Buisson, Nadia,
Meuwissen, Marije,
Jansen, Anna C. ![ORCID 0000-0002-3835-2824](/images/orcid_16x16.gif)
und
Stouffs, Katrien ![ORCID 0000-0001-8164-5692](/images/orcid_16x16.gif)
(2020)
Defining the phenotypical spectrum associated with variants in TUBB2A.
Journal of Medical Genetics 58 (1), S. 33-40.
Volltext nicht vorhanden.
Paul, Luisa,
Rupprich, Katrin,
Della Marina, Adela,
Stein, Anja,
Elgizouli, Magdeldin,
Kaiser, Frank J.,
Schweiger, Bernd,
Köninger, Angela,
Iannaccone, Antonella,
Hehr, Ute,
Kölbel, Heike,
Roos, Andreas,
Schara-Schmidt, Ulrike und
Kuechler, Alma
(2020)
Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Orphanet Journal of Rare Diseases 15 (1).
Volltext nicht vorhanden.
2017
Kuechler, Alma,
Czeschik, Johanna Christina,
Graf, Elisabeth,
Grasshoff, Ute,
Hüffmeier, Ulrike,
Busa, Tiffany,
Beck-Woedl, Stefanie,
Faivre, Laurence,
Rivière, Jean-Baptiste,
Bader, Ingrid,
Koch, Johannes,
Reis, André ![ORCID 0000-0002-6301-6363](/images/orcid_16x16.gif)
,
Hehr, Ute,
Rittinger, Olaf,
Sperl, Wolfgang,
Haack, Tobias B.,
Wieland, Thomas,
Engels, Hartmut,
Prokisch, Holger ![ORCID 0000-0003-2379-6286](/images/orcid_16x16.gif)
,
Strom, Tim M.,
Lüdecke, Hermann-Josef und
Wieczorek, Dagmar
(2017)
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
European Journal of Human Genetics 25 (2), S. 183-191.
Volltext nicht vorhanden.
Romaniello, Romina,
Arrigoni, Filippo,
Panzeri, Elena,
Poretti, Andrea,
Micalizzi, Alessia ![ORCID 0000-0001-9927-5781](/images/orcid_16x16.gif)
,
Citterio, Andrea ![ORCID 0000-0003-4462-5646](/images/orcid_16x16.gif)
,
Bedeschi, Maria Francesca,
Berardinelli, Angela,
Cusmai, Raffaella,
D’Arrigo, Stefano,
Ferraris, Alessandro,
Hackenberg, Annette,
Kuechler, Alma,
Mancardi, Margherita,
Nuovo, Sara ![ORCID 0000-0003-1359-5122](/images/orcid_16x16.gif)
,
Oehl-Jaschkowitz, Barbara,
Rossi, Andrea ![ORCID 0000-0001-8575-700X](/images/orcid_16x16.gif)
,
Signorini, Sabrina,
Tüttelmann, Frank,
Wahl, Dagmar,
Hehr, Ute,
Boltshauser, Eugen,
Bassi, Maria Teresa,
Valente, Enza Maria ![ORCID 0000-0002-0600-6820](/images/orcid_16x16.gif)
und
Borgatti, Renato ![ORCID 0000-0001-8165-4994](/images/orcid_16x16.gif)
(2017)
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
European Radiology 27 (12), S. 5080-5092.
Volltext nicht vorhanden.
Diese Liste wurde erzeugt am Fri Aug 16 23:01:06 2024 CEST.