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Trieschmann,\ G.*\ ; Wilhelm,\ C.*\ ; Berweck,\ S.*\ ; Zech,\ M.
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De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.
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Eur. J. Med. Genet. 66:104802 (2023)
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Harrer,\ P.\ ; Leppmeier,\ V.*\ ; Berger,\ A.*\ ; Demund,\ S.*\ ; Winkelmann,\ J.\ ; Berweck,\ S.*\ ; Zech,\ M.
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A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article \"BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).\".
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Eur. J. Med. Genet. 65:104635 (2022)
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Krenn,\ M.*\ ; Kepa,\ S.*\ ; Kasprian,\ G.*\ ; Riedhammer,\ K.M.*\ ; Wagner,\ M.\ ; Goedl-Fleischhacker,\ U.*\ ; Milenkovic,\ I.*
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A \de novo\ truncating variant in \CSDE1\ in an adult-onset neuropsychiatric phenotype without intellectual disability.
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Eur. J. Med. Genet. 65:104423 (2022)
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Illsinger,\ S.*\ ; Korenke,\ G.C.*\ ; Boesch,\ S.*\ ; Nocker,\ M.*\ ; Karall,\ D.*\ ; Nuoffer,\ J.M.*\ ; Laugwitz,\ L.*\ ; Mayr,\ J.A.*\ ; Scholl-Bürgi,\ S.*\ ; Freisinger,\ P.*\ ; Kowald,\ T.*\ ; Kölker,\ S.*\ ; Prokisch,\ H.\ ; Haack,\ T.B.*
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Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.
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Eur. J. Med. Genet. 63:104046 (2020)
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Mercati,\ O.*\ ; Abi Warde,\ M.T.*\ ; Lina-Granade,\ G.*\ ; Rio,\ M.*\ ; Heide,\ S.*\ ; de Lonlay,\ P.*\ ; Ceballos-Picot,\ I.*\ ; Robert,\ M.P.*\ ; Couloigner,\ V.*\ ; Beltrand,\ J.*\ ; Boddaert,\ N.*\ ; Rodriguez,\ D.*\ ; Rubinato,\ E.*\ ; Lapierre,\ J.M.*\ ; Merlette,\ C.*\ ; Sanquer,\ S.*\ ; Rötig,\ A.*\ ; Prokisch,\ H.\ ; Lyonnet,\ S.*\ ; Loundon,\ N.*\ ; Kaplan,\ J.*\ ; Bonnefont,\ J.P.*\ ; Munnich,\ A.*\ ; Besmond,\ C.*\ ; Jonard,\ L.*\ ; Marlin,\ S.*
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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
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Eur. J. Med. Genet. 63:104033 (2020)
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Kloth,\ K.*\ ; Denecke,\ J.*\ ; Hempel,\ M.*\ ; Johannsen,\ J.*\ ; Strom,\ T.M.\ ; Kubisch,\ C.*\ ; Lessel,\ D.*
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First \de novo ANK3\ nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
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Eur. J. Med. Genet. 60, 494-498 (2017)
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Pozojevic,\ J.*\ ; Parenti,\ I.*\ ; Graul-Neumann,\ L.*\ ; Ruiz Gil,\ S.*\ ; Watrin,\ E.*\ ; Wendt,\ K.S.*\ ; Werner,\ R.*\ ; Strom,\ T.M.\ ; Gillessen-Kaesbach,\ G.*\ ; Kaiser,\ F.J.*
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Novel mosaic variants in two patients with Cornelia de Lange syndrome.
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Eur. J. Med. Genet. 61, 680-684 (2017)
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Bürk,\ K.*\ ; Kaiser,\ F.J.*\ ; Tennstedt,\ S.*\ ; Schöls,\ L.*\ ; Kreuz,\ F.R.*\ ; Wieland,\ T.\ ; Strom,\ T.M.\ ; Büttner,\ T.*\ ; Hollstein,\ R.*\ ; Braunholz,\ D.*\ ; Plaschke,\ J.*\ ; Gillessen-Kaesbach,\ G.*\ ; Zühlke,\ C.*
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A novel missense mutation in \CACNA1A\ evaluated by \in silico\ protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
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Eur. J. Med. Genet. 57, 207-211 (2014)
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Auer-Grumbach,\ M.*\ ; Bode,\ H.*\ ; Pieber,\ T.R.*\ ; Schabhüttl,\ M.*\ ; Fischer,\ D.*\ ; Seidl,\ R.*\ ; Graf,\ E.\ ; Wieland,\ T.\ ; Schuh,\ R.*\ ; Vacariu,\ G.*\ ; Grill,\ F.*\ ; Timmerman,\ V.*\ ; Strom,\ T.M.\ ; Hornemann,\ T.*
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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
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Eur. J. Med. Genet. 56, 266-269 (2013)
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Oexle,\ K.*\ ; Hempel,\ M.*\ ; Jauch,\ A.*\ ; Meitinger,\ T.\ ; Rivera-Brugues,\ N.\ ; Stengel-Rutkowski,\ S.*\ ; Strom,\ T.M.
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3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
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Eur. J. Med. Genet. 54, 225-230 (2011)
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