Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske

dc.contributor.author	Magg, Janine
dc.contributor.author	Riess, Angelika
dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2022-11-07T10:11:13Z
dc.date.available	2022-11-07T10:11:13Z
dc.date.issued	2022
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/132846
dc.language.iso	en	de_DE
dc.publisher	Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2022.02.014	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_00580
utue.publikation.seiten	1283-1296	de_DE
utue.personen.roh	van der Spek, Jet
utue.personen.roh	den Hoed, Joery
utue.personen.roh	Blok, Lot Snijders
utue.personen.roh	Dingemans, Alexander J. M.
utue.personen.roh	Schijven, Dick
utue.personen.roh	Nellaker, Christoffer
utue.personen.roh	Venselaar, Hanka
utue.personen.roh	Astuti, Galuh D. N.
utue.personen.roh	Barakat, Tahsin Stefan
utue.personen.roh	Bebin, E. Martina
utue.personen.roh	Beck-Wodl, Stefanie
utue.personen.roh	Beunders, Gea
utue.personen.roh	Brown, Natasha J.
utue.personen.roh	Brunet, Theresa
utue.personen.roh	Brunner, Han G.
utue.personen.roh	Campeau, Philippe M.
utue.personen.roh	Cuturilo, Goran
utue.personen.roh	Gilissen, Christian
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Huning, Irina
utue.personen.roh	Husain, Ralf A.
utue.personen.roh	Kamien, Benjamin
utue.personen.roh	Lim, Sze Chern
utue.personen.roh	Lovrecic, Luca
utue.personen.roh	Magg, Janine
utue.personen.roh	Maver, Ales
utue.personen.roh	Miranda, Valancy
utue.personen.roh	Monteil, Danielle C.
utue.personen.roh	Ockeloen, Charlotte W.
utue.personen.roh	Pais, Lynn S.
utue.personen.roh	Plaiasu, Vasilica
utue.personen.roh	Raiti, Laura
utue.personen.roh	Richmond, Christopher
utue.personen.roh	Riess, Angelika
utue.personen.roh	Schwaibold, Eva M. C.
utue.personen.roh	Simon, Marleen E. H.
utue.personen.roh	Spranger, Stephanie
utue.personen.roh	Tan, Tiong Yang
utue.personen.roh	Thompson, Michelle L.
utue.personen.roh	de Vries, Bert B. A.
utue.personen.roh	Wilkins, Ella J.
utue.personen.roh	Willemsen, Marjolein H.
utue.personen.roh	Francks, Clyde
utue.personen.roh	Vissers, Lisenka E. L. M.
utue.personen.roh	Fisher, Simon E.
utue.personen.roh	Kleefstra, Tjitske
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	24	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE