Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Mueller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Huebner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Koelbel, Heike

dc.contributor.author	Hoopmann, Markus
dc.date.accessioned	2020-02-26T13:28:25Z
dc.date.available	2020-02-26T13:28:25Z
dc.date.issued	2019
dc.identifier.issn	1750-1172
dc.identifier.uri	http://hdl.handle.net/10900/98382
dc.language.iso	en	en
dc.publisher	Bmc	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s13023-019-1119-0
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_00549
utue.personen.roh	Geis, Tobias
utue.personen.roh	Roedl, Tanja
utue.personen.roh	Topaloglu, Haluk
utue.personen.roh	Balci-Hayta, Burcu
utue.personen.roh	Hinreiner, Sophie
utue.personen.roh	Mueller-Felber, Wolfgang
utue.personen.roh	Schoser, Benedikt
utue.personen.roh	Mehraein, Yasmin
utue.personen.roh	Huebner, Angela
utue.personen.roh	Zirn, Birgit
utue.personen.roh	Hoopmann, Markus
utue.personen.roh	Reutter, Heiko
utue.personen.roh	Mowat, David
utue.personen.roh	Schuierer, Gerhard
utue.personen.roh	Schara, Ulrike
utue.personen.roh	Hehr, Ute
utue.personen.roh	Koelbel, Heike
dcterms.isPartOf.ZSTitelID	Orphanet Journal of Rare Diseases	de_DE
dcterms.isPartOf.ZS-Issue	Article 179	de_DE
dcterms.isPartOf.ZS-Volume	14	de_DE
utue.fakultaet	04 Medizinische Fakultät