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Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patientsView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082
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Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registryView onlineSchließen
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Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502
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Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesView onlineSchließen
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Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13
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König, Marton; Koht, Jeanette AimeeEnsidig rødme eller ensidig blekhet?View onlineSchließen
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Published in: Tidsskrift for Den norske legeforening (2021)
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Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès‐Saladelafont, Elisenda; Mercimek‐Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer‐Valls, Inés; Domingo‐Jimenez, Rosario; Ibáñez, Salvador; Alcoverro‐Fortuny, Oscar; Gómez‐Alemany, Teresa; de Castro, Pedro; Alfonsi, Chiara; Zafeiriou, Dimitrios I.; López‐Laso, Eduardo; Guder, Philipp; Santer, René; Honzík, Tomáš; [...]Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsView onlineSchließen
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Published in: Journal of Inherited Metabolic Disease, 44 (2021) 4, Seite 1070-1082
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Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet‐Na; Zafeiriou, Dimitrios I.; López‐Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano‐Lomelin, Jesus; Garbade, Sven F.; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès‐Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García‐Cazorla, Angeles; Hoffmann, Georg F.; Kiat Hong, Stacey Tay; [...]Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryView onlineSchließen
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Published in: Journal of Inherited Metabolic Disease, 44 (2021) 6, Seite 1489-1502
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Kuseyri Hübschmann, Oya; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios I.; Kulhánek, Jan; Kurian, Manju A.; López-Laso, Eduardo; Oppebøen, Mari; Kılavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Bürgi, Sabine; Porta, Francesco; Honzík, Tomáš; Santer, René; Burlina, Alberto; Sivri, H. Serap; [...]Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesView onlineSchließen
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Published in: Nature Communications, 12 (2021) 1