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		<title>Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes</title>
		<link>https://mbexc.de/de/expansion-of-the-complex-genotypic-and-phenotypic-spectrum-of-fgfr2-associated-neurocutaneous-syndromes/</link>
		
		<dc:creator><![CDATA[Susann Meyer]]></dc:creator>
		<pubDate>Wed, 24 Jan 2024 08:22:15 +0000</pubDate>
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					<description><![CDATA[Schmidt J, Kaulfuß S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B]]></description>
		
		
		
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		<title>Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita</title>
		<link>https://mbexc.de/de/homozygous-loss-of-function-variants-in-filip1-cause-autosomal-recessive-arthrogryposis-multiplex-congenita/</link>
		
		<dc:creator><![CDATA[Susann Meyer]]></dc:creator>
		<pubDate>Tue, 11 Oct 2022 12:01:14 +0000</pubDate>
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		<category><![CDATA[Epigenetic Regulation of Gene Transcription]]></category>
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					<description><![CDATA[Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G]]></description>
		
		
		
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		<title>Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene</title>
		<link>https://mbexc.de/de/autosomal-dominant-non-syndromic-hearing-loss-maps-to-dfna33-13q34-and-co-segregates-with-splice-and-frameshift-variants-in-atp11a-a-phospholipid-flippase-gene/</link>
		
		<dc:creator><![CDATA[Susann Meyer]]></dc:creator>
		<pubDate>Sat, 12 Mar 2022 11:35:49 +0000</pubDate>
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		<category><![CDATA[Vona, Barbara]]></category>
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					<description><![CDATA[Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL]]></description>
		
		
		
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		<title>Biallelic variants in YRDC cause a developmental disorder with progeroid features</title>
		<link>https://mbexc.de/de/biallelic-variants-in-yrdc-cause-a-developmental-disorder-with-progeroid-features/</link>
		
		<dc:creator><![CDATA[Susann Meyer]]></dc:creator>
		<pubDate>Mon, 20 Sep 2021 10:39:58 +0000</pubDate>
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		<category><![CDATA[Lehnart, Stephan]]></category>
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					<description><![CDATA[Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B]]></description>
		
		
		
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		<title>Bi-allelic Missense Disease-Causing Variants in RPL3L Associate Neonatal Dilated Cardiomyopathy With Muscle-Specific Ribosome Biogenesis</title>
		<link>https://mbexc.de/de/bi-allelic-missense-disease-causing-variants-in-rpl3l-associate-neonatal-dilated-cardiomyopathy-with-muscle-specific-ribosome-biogenesis/</link>
		
		<dc:creator><![CDATA[Susann Meyer]]></dc:creator>
		<pubDate>Mon, 08 Jun 2020 14:54:14 +0000</pubDate>
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					<description><![CDATA[Ganapathi M, Argyriou L, Martínez-Azorín F,  Morlot S, Yigit G, Lee TM,  Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorlí-García M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B]]></description>
		
		
		
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		<title>De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome</title>
		<link>https://mbexc.de/de/de-novo-mutations-in-fbrsl1-cause-a-novel-recognizable-malformation-and-intellectual-disability-syndrome-2/</link>
		
		<dc:creator><![CDATA[Fritz Kobe]]></dc:creator>
		<pubDate>Mon, 18 May 2020 10:07:40 +0000</pubDate>
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					<description><![CDATA[Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmuller J, Nurnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S]]></description>
		
		
		
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