Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

Lenz, Dominic; Smith, Desiree E. C.; Crushell, Ellen; Husain, Ralf A.; Salomons, Gajja S.; Alhaddad, Bader; Bernstein, Jonathan A.; Bianzano, Alyssa; Biskup, Saskia; Brennenstuhl, Heiko; Caldari, Dominique; Dikow, Nicola; Haack, Tobias B.; Hanson-Kahn, Andrea; Harting, Inga; Horn, Denise; Hughes, Joanne; Huijberts, Maya; Isidor, Bertrand; Kathemann, Simone; Kopajtich, Robert; Kotzaeridou, Urania; Kuery, Sebastien; Lainka, Elke; Laugwitz, Lucia; Lupski, James R.; Posey, Jennifer E.; Reynolds, Claire; Rosenfeld, Jill A.; Schroeter, Julian; Vansenne, Fleur; Wagner, Matias; Weiss, Claudia; Wolffenbuttel, Bruce H. R.; Wortmann, Saskia B.; Koelker, Stefan; Hoffmann, Georg F.; Prokisch, Holger; Mendes, Marisa, I; Staufner, Christian

dc.contributor.author	Laugwitz, Lucia
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2020-12-08T10:59:32Z
dc.date.available	2020-12-08T10:59:32Z
dc.date.issued	2020
dc.identifier.issn	1530-0366
dc.identifier.uri	http://hdl.handle.net/10900/110431
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41436-020-0904-4	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200929220116_00523
utue.publikation.seiten	1863-1873	de_DE
utue.personen.roh	Lenz, Dominic
utue.personen.roh	Smith, Desiree E. C.
utue.personen.roh	Crushell, Ellen
utue.personen.roh	Husain, Ralf A.
utue.personen.roh	Salomons, Gajja S.
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Bernstein, Jonathan A.
utue.personen.roh	Bianzano, Alyssa
utue.personen.roh	Biskup, Saskia
utue.personen.roh	Brennenstuhl, Heiko
utue.personen.roh	Caldari, Dominique
utue.personen.roh	Dikow, Nicola
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Hanson-Kahn, Andrea
utue.personen.roh	Harting, Inga
utue.personen.roh	Horn, Denise
utue.personen.roh	Hughes, Joanne
utue.personen.roh	Huijberts, Maya
utue.personen.roh	Isidor, Bertrand
utue.personen.roh	Kathemann, Simone
utue.personen.roh	Kopajtich, Robert
utue.personen.roh	Kotzaeridou, Urania
utue.personen.roh	Kuery, Sebastien
utue.personen.roh	Lainka, Elke
utue.personen.roh	Laugwitz, Lucia
utue.personen.roh	Lupski, James R.
utue.personen.roh	Posey, Jennifer E.
utue.personen.roh	Reynolds, Claire
utue.personen.roh	Rosenfeld, Jill A.
utue.personen.roh	Schroeter, Julian
utue.personen.roh	Vansenne, Fleur
utue.personen.roh	Wagner, Matias
utue.personen.roh	Weiss, Claudia
utue.personen.roh	Wolffenbuttel, Bruce H. R.
utue.personen.roh	Wortmann, Saskia B.
utue.personen.roh	Koelker, Stefan
utue.personen.roh	Hoffmann, Georg F.
utue.personen.roh	Prokisch, Holger
utue.personen.roh	Mendes, Marisa, I
utue.personen.roh	Staufner, Christian
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Volume	22	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE