Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

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dc.contributor.author Grossmann, Benita
dc.contributor.author Grimmel, Mona
dc.contributor.author Grasshoff, Ute
dc.contributor.author LRad, Aboulfaz
dc.contributor.author Vona, Barbara
dc.contributor.author Haack, Tobias
dc.date.accessioned 2022-02-17T10:30:30Z
dc.date.available 2022-02-17T10:30:30Z
dc.date.issued 2021-10-07
dc.identifier.issn 1537-6605
dc.identifier.uri http://hdl.handle.net/10900/124657
dc.language.iso en de_DE
dc.publisher Cell Press de_DE
dc.relation.uri http://dx.doi.org/10.1016/j.ajhg.2021.08.003 de_DE
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss de_DE
dc.type Article de_DE
utue.kommentar.intern mehr als 100 Autoren de_DE
utue.quellen.id 20211125174918_00301
utue.publikation.seiten 2006-2016 de_DE
utue.personen.roh Richard, Elodie M.
utue.personen.roh Bakhtiari, Somayeh
utue.personen.roh Marsh, Ashley P. L.
utue.personen.roh Kaiyrzhanov, Rauan
utue.personen.roh Wagner, Matias
utue.personen.roh Shetty, Sheetal
utue.personen.roh Pagnozzi, Alex
utue.personen.roh Nordlie, Sandra M.
utue.personen.roh Guida, Brandon S.
utue.personen.roh Cornejo, Patricia
utue.personen.roh Magee, Helen
utue.personen.roh Liu, James
utue.personen.roh Norton, Bethany Y.
utue.personen.roh Webster, Richard, I
utue.personen.roh Worgan, Lisa
utue.personen.roh Hakonarson, Hakon
utue.personen.roh Li, Jiankang
utue.personen.roh Guo, Yiran
utue.personen.roh Jain, Mahim
utue.personen.roh Blesson, Alyssa
utue.personen.roh Rodan, Lance H.
utue.personen.roh Abbott, Mary-Alice
utue.personen.roh Comi, Anne
utue.personen.roh Cohen, Julie S.
utue.personen.roh Alhaddad, Bader
utue.personen.roh Meitinger, Thomas
utue.personen.roh Lenz, Dominic
utue.personen.roh Ziegler, Andreas
utue.personen.roh Kotzaeridou, Urania
utue.personen.roh Brunet, Theresa
utue.personen.roh Chassevent, Anna
utue.personen.roh Smith-Hicks, Constance
utue.personen.roh Ekstein, Joseph
utue.personen.roh Weiden, Tzvi
utue.personen.roh Hahn, Andreas
utue.personen.roh Zharkinbekova, Nazira
utue.personen.roh Turnpenny, Peter
utue.personen.roh Tucci, Arianna
utue.personen.roh Yelton, Melissa
utue.personen.roh Horvath, Rita
utue.personen.roh Gungor, Serdal
utue.personen.roh Hiz, Semra
utue.personen.roh Oktay, Yavuz
utue.personen.roh Lochmuller, Hanns
utue.personen.roh Zollino, Marcella
utue.personen.roh ManuelaMorleo
utue.personen.roh Marangi, Giuseppe
utue.personen.roh Nigro, Vincenzo
utue.personen.roh Torella, Annalaura
utue.personen.roh Pinelli, Michele
utue.personen.roh Amenta, Simona
utue.personen.roh Husain, Ralf A.
utue.personen.roh Grossmann, Benita
utue.personen.roh Rapp, Marion
utue.personen.roh Steen, Claudia
utue.personen.roh Marquardt, Iris
utue.personen.roh Grimmel, Mona
utue.personen.roh Grasshoff, Ute
utue.personen.roh Korenke, G. Christoph
utue.personen.roh Owczarek-Lipska, Marta
utue.personen.roh Neidhardt, John
utue.personen.roh Radio, Francesca Clementinac
utue.personen.roh Mancini, Cecilia
utue.personen.roh Sepulveda, Dianela Judith Claps
utue.personen.roh Mc Walter, Kirsty
utue.personen.roh Begtrup, Amber
utue.personen.roh Crunk, Amy
utue.personen.roh Sacoto, Maria J. Guillen
utue.personen.roh Person, Richard
utue.personen.roh Schnur, Rhonda E.
utue.personen.roh Mancardi, Maria Margherita
utue.personen.roh Kreuder, Florian
utue.personen.roh Striano, Pasquale
utue.personen.roh Zara, Federico
utue.personen.roh Chung, Wendy K.
utue.personen.roh Marks, Warren A.
utue.personen.roh van Eyk, Clare L.
utue.personen.roh Webber, Dani L.
utue.personen.roh Corbett, Mark A.
utue.personen.roh Harper, Kelly
utue.personen.roh Berry, Jesia G.
utue.personen.roh Mac Lennan, Alastair H.
utue.personen.roh Gecz, Jozef
utue.personen.roh Tartaglia, Marco
utue.personen.roh Salpietro, Vincenzo
utue.personen.roh Christodoulou, John
utue.personen.roh Kaslin, Jan
utue.personen.roh Padilla-Lopez, Sergio
utue.personen.roh Bilguvar, Kaya
utue.personen.roh Munchau, Alexander
utue.personen.roh Ahmed, Zubair M.
utue.personen.roh Hufnagel, Robert B.
utue.personen.roh Fahey, Michael C.
utue.personen.roh Maroofian, Reza
utue.personen.roh Houlden, Henry
utue.personen.roh Sticht, Heinrich
utue.personen.roh Mane, Shrikant M.
utue.personen.roh LRad, Aboulfaz
utue.personen.roh Vona, Barbara
utue.personen.roh Jin, Sheng Chih
utue.personen.roh Haack, Tobias B.
dcterms.isPartOf.ZSTitelID American Journal of Human Genetics de_DE
dcterms.isPartOf.ZS-Issue 10 de_DE
dcterms.isPartOf.ZS-Volume 108 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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