Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Yap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Parra, Karen Vargas; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M.; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee

dc.contributor.author	Seiffert, Simone
dc.contributor.author	Vona, Barbara
dc.contributor.author	Weber, Yvonne G.
dc.date.accessioned	2022-05-23T09:38:31Z
dc.date.available	2022-05-23T09:38:31Z
dc.date.issued	2021
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/127197
dc.language.iso	en	de_DE
dc.publisher	Cambridge	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2021.11.003	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220404000000_00234
utue.publikation.seiten	2368-2384	de_DE
utue.personen.roh	Yap, Zheng Yie
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Seiffert, Simone
utue.personen.roh	Parra, Karen Vargas
utue.personen.roh	Lee, Sukyeong
utue.personen.roh	Nasca, Alessia
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Schrauwen, Isabelle
utue.personen.roh	Pendziwiat, Manuela
utue.personen.roh	Jung, Sunhee
utue.personen.roh	Bhoj, Elizabeth
utue.personen.roh	Striano, Pasquale
utue.personen.roh	Mankad, Kshitij
utue.personen.roh	Vona, Barbara
utue.personen.roh	Cuddapah, Sanmati
utue.personen.roh	Wagner, Anja
utue.personen.roh	Alvi, Javeria Raza
utue.personen.roh	Davoudi-Dehaghani, Elham
utue.personen.roh	Fallah, Mohammad-Sadegh
utue.personen.roh	Gannavarapu, Srinitya
utue.personen.roh	Lamperti, Costanza
utue.personen.roh	Legati, Andrea
utue.personen.roh	Murtaza, Bibi Nazia
utue.personen.roh	Nadeem, Muhammad Shahid
utue.personen.roh	Rehman, Mujaddad Ur
utue.personen.roh	Saeidi, Kolsoum
utue.personen.roh	Salpietro, Vincenzo
utue.personen.roh	von Spiczak, Sarah
utue.personen.roh	Sandoval, Abigail
utue.personen.roh	Zeinali, Sirous
utue.personen.roh	Zeviani, Massimo
utue.personen.roh	Reich, Adi
utue.personen.roh	Jang, Cholsoon
utue.personen.roh	Helbig, Ingo
utue.personen.roh	Barakat, Tahsin Stefan
utue.personen.roh	Ghezzi, Daniele
utue.personen.roh	Leal, Suzanne M.
utue.personen.roh	Weber, Yvonne
utue.personen.roh	Houlden, Henry
utue.personen.roh	Yoon, Wan Hee
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	12	de_DE
dcterms.isPartOf.ZS-Volume	108	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE