Anzahl der Einträge: 2.
2021
Schlingmann, Karl P.,
Renigunta, Aparna,
Hoorn, Ewout J.,
Forst, Anna-Lena,
Renigunta, Vijay,
Atanasov, Velko,
Mahendran, Sinthura,
Barakat, Tahsin Stefan ![ORCID 0000-0003-1231-1562](/images/orcid_16x16.gif)
,
Gillion, Valentine,
Godefroid, Nathalie,
Brooks, Alice S.,
Lugtenberg, Dorien,
Lake, Jennifer ![ORCID 0000-0002-9617-7438](/images/orcid_16x16.gif)
,
Debaix, Huguette,
Rudin, Christoph,
Knebelmann, Bertrand,
Tellier, Stephanie,
Rousset-Rouvière, Caroline,
Viering, Daan,
de Baaij, Jeroen H. F. ![ORCID 0000-0003-2372-8486](/images/orcid_16x16.gif)
,
Weber, Stefanie,
Palygin, Oleg ![ORCID 0000-0002-3680-5527](/images/orcid_16x16.gif)
,
Staruschenko, Alexander,
Kleta, Robert,
Houillier, Pascal,
Bockenhauer, Detlef,
Devuyst, Olivier,
Vargas-Poussou, Rosa,
Warth, Richard ![ORCID 0000-0001-6084-0659](/images/orcid_16x16.gif)
,
Zdebik, Anselm A. und
Konrad, Martin
(2021)
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Journal of the American Society of Nephrology 32 (6), S. 1498-1512.
Volltext nicht vorhanden.
2020
Oegema, Renske ![ORCID 0000-0002-7146-617X](/images/orcid_16x16.gif)
,
Barakat, Tahsin Stefan ![ORCID 0000-0003-1231-1562](/images/orcid_16x16.gif)
,
Wilke, Martina,
Stouffs, Katrien ![ORCID 0000-0001-8164-5692](/images/orcid_16x16.gif)
,
Amrom, Dina,
Aronica, Eleonora,
Bahi-Buisson, Nadia,
Conti, Valerio ![ORCID 0000-0002-8326-6378](/images/orcid_16x16.gif)
,
Fry, Andrew E. ![ORCID 0000-0001-9778-6924](/images/orcid_16x16.gif)
,
Geis, Tobias,
Andres, David Gomez,
Parrini, Elena,
Pogledic, Ivana ![ORCID 0000-0001-5465-3005](/images/orcid_16x16.gif)
,
Said, Edith,
Soler, Doriette,
Valor, Luis M.,
Zaki, Maha S. ![ORCID 0000-0001-7840-0002](/images/orcid_16x16.gif)
,
Mirzaa, Ghayda,
Dobyns, William B.,
Reiner, Orly,
Guerrini, Renzo ![ORCID 0000-0002-7272-7079](/images/orcid_16x16.gif)
,
Pilz, Daniela T.,
Hehr, Ute,
Leventer, Richard J.,
Jansen, Anna C. ![ORCID 0000-0002-3835-2824](/images/orcid_16x16.gif)
,
Mancini, Grazia M. S. und
Di Donato, Nataliya ![ORCID 0000-0001-9439-4677](/images/orcid_16x16.gif)
(2020)
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Nature Reviews Neurology 16 (11), S. 618-635.
Volltext nicht vorhanden.
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