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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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Julia‐Palacios, Natalia Alexandra; Kuseyri Hübschmann, Oya; Olivella, Mireia; Pons, Roser; Horvath, Gabriella; Lücke, Thomas; Fung, Cheuk‐Wing; Wong, Suet‐Na; Cortès‐Saladelafont, Elisenda; Rovira‐Remisa, M. Mar; Yıldız, Yılmaz; Mercimek‐Andrews, Saadet; Assmann, Birgit; Stevanović, Galina; Manti, Filippo; Brennenstuhl, Heiko; Jung‐Klawitter, Sabine; Jeltsch, Kathrin; Sivri, H. Serap; Garbade, Sven F.; García‐Cazorla, Àngels; Opladen, ThomasThe continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyView onlineSchließen
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Published in: Journal of Inherited Metabolic Disease
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Kuseyri Hübschmann, Oya; Juliá‐Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhánek, Jan; Pearson, Toni S.; Kuster, Alice; Cortès‐Saladelafont, Elisenda; Ibáñez, Salvador; García‐Jiménez, Maria Concepción; Honzík, Tomáš; Santer, René; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; García‐Cazorla, ÁngelesIntegrative Approach to Predict Severity in Nonketotic HyperglycinemiaView onlineSchließen
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Published in: Annals of Neurology
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Kuseyri Hübschmann, Oya; Palacios, Natalia Alexandra Julia; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhánek, Jan; Pearson, Toni S.; Kuster, Alice; Cortès-Saladelafont, Elisenda; Ibáñez, Salvador; García-Jiménez, M. Concepción; Honzík, Tomáš; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg Friedrich; Opladen, Thomas; García-Cazorla, ÁngelesAn Integrative Approach to Predict Phenotypic Severity in Nonketotic HyperglycinemiaView onlineSchließen
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Published in: SSRN Electronic Journal
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Yıldız, Yılmaz; Kuseyri Hübschmann, Oya; Akgöz Karaosmanoğlu, Ayça; Manti, Filippo; Karaca, Meryem; Schwartz, Ida Vanessa D.; Pons, Roser; López‐Laso, Eduardo; Palacios, Natalia Alexandra Julia; Porta, Francesco; Kavecan, Ivana; Balcı, Mehmet Cihan; Dy‐Hollins, Marisela E.; Wong, Suet‐Na; Oppebøen, Mari; Medeiros, Leonardo Simão; de Paula, Leila Cristina Pedroso; García‐Cazorla, Angeles; Hoffmann, Georg F.; Jeltsch, Kathrin; Leuzzi, Vincenzo; Gökçay, Gülden; Hübschmann, Daniel; Harting, Inga; [...]Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismView onlineSchließen
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Published in: Journal of Inherited Metabolic Disease
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Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Juliá-Palacios, Natalia Alexandra; Ortez, Carlos; Poch, Maria Luisa; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernández-Laín, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; Castro, Margarita del Carmen; de la Osa-Langreo, Alberto; Peña-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Pascual-Pascual, Samuel Ignacio; López de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; [...]Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variantView onlineSchließen
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Published in: Journal of Medical Genetics
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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
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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
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O’Halloran, Jane A.; Ko, Emily R.; Anstrom, Kevin J.; Kedar, Eyal; McCarthy, Matthew W.; Panettieri, Reynold A.; Maillo, Martin; Nunez, Patricia Segura; Lachiewicz, Anne M.; Gonzalez, Cynthia; Smith, P. Brian; de Tai, Sabina Mendivil-Tuchia; Khan, Akram; Lora, Alfredo J. Mena; Salathe, Matthias; Capo, Gerardo; Gonzalez, Daniel Rodríguez; Patterson, Thomas F.; Palma, Christopher; Ariza, Horacio; Lima, Maria Patelli; Blamoun, John; Nannini, Esteban C.; Sprinz, Eduardo; [...]Abatacept, Cenicriviroc, or Infliximab for Treatment of Adults Hospitalized With COVID-19 Pneumonia : A Randomized Clinical Trial : A Randomized Clinical TrialView onlineSchließen
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Published in: JAMA
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Nagy-Reis, Mariana B.; de Faria Oshima, Júlia Emi; Kanda, Claudia Zukeran; Palmeira, Francesca Belem Lopes; de Melo, Fabiano Rodrigues; Morato, Ronaldo Gonçalves; Bonjorne, Lilian; Magioli, Marcelo; Leuchtenberger, Caroline; Rohe, Fabio; Lemos, Frederico Gemesio; Martello, Felipe; Alves-Eigenheer, Milene; da Silva, Rafaela Aparecida; dos Santos, Juliana Silveira; Priante, Camila Fátima; Bernardo, Rodrigo; Rogeri, Patricia; Assis, Julia Camara; Gaspar, Lucas Pacciullio; Tonetti, Vinicius Rodrigues; Trinca, Cristiano Trapé; de Souza Ribeiro, Adauto; Bocchiglieri, Adriana; [...]NEOTROPICAL CARNIVORES : a data set on carnivore distribution in the NeotropicsView onlineSchließen
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Published in: Ecology
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Nagy‐Reis, Mariana; Oshima, Júlia Emi de Faria; Kanda, Claudia Zukeran; Palmeira, Francesca Belem Lopes; de Melo, Fabiano Rodrigues; Morato, Ronaldo Gonçalves; Bonjorne, Lilian; Magioli, Marcelo; Leuchtenberger, Caroline; Rohe, Fabio; Lemos, Frederico Gemesio; Martello, Felipe; Alves‐Eigenheer, Milene; da Silva, Rafaela Aparecida; Silveira dos Santos, Juliana; Priante, Camila Fátima; Bernardo, Rodrigo; Rogeri, Patricia; Assis, Julia Camara; Gaspar, Lucas Pacciullio; Tonetti, Vinicius Rodrigues; Trinca, Cristiano Trapé; Ribeiro, Adauto de Souza; Bocchiglieri, Adriana; [...]NEOTROPICAL CARNIVORES: a data set on carnivore distribution in the NeotropicsView onlineSchließen
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Published in: Ecology
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Yavuz, S. Tolga; Koc, Ozan; Gungor, Ali; Gok, Faysal; Hawley, Jessica; O’Brien, Christopher; Thomas, Matthew; Brodlie, Malcolm; Michaelis, Louise; Mota, Inês; Gaspar, Ângela; Piedade, Susana; Sampaio, Graça; Dias, José Geraldo; Paiva, Miguel; Morais-Almeida, Mário; Madureira, Cristina; Lopes, Tânia; Lopes, Susana; Almeida, Filipa; Sequeira, Alexandra; Carvalho, Fernanda; Oliveira, José; Gay-Crosier, Fabienne; [...]4th Pediatric Allergy and Asthma Meeting (PAAM)View onlineSchließen
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Published in: Clinical and Translational Allergy
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Pouessel, Guillaume; Claverie, Claire; Labreuche, Julien; Renaudin, Jean-Marie; Dorkenoo, Aimée; Eb, Mireille; Moneret-Vautrin, Anne; Deschildre, Antoine; Leteurtre, Stephane; Grabenhenrich, Linus; Worm, Margitta; Dölle, Sabine; Scherer, Kathrin; Hutteger, Isidor; Christensen, Morten; Bindslev-Jensen, Carsten; Mortz, Charlotte; Eller, Esben; Kjaer, Henrik Fomsgaard; Carneiro-Leão, Leonor; Badas, Jenny; Coimbra, Alice; Levy, Dikla Pivko; Ben-Shoshan, Moshe; [...]Abstracts from the Food Allergy and Anaphylaxis Meeting 2016View onlineSchließen
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Published in: Clinical and Translational Allergy
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Xu, William; Liu, Gordon; Varghese, Chris; Wells, Cameron; Smith, Nicolas; Windsor, John; Gaborit, Lorane; Goh, Sarah; Basam, Aya; Elhadi, Muhammed; Soh, Rachel TingQian; Saeed, Umar; Abdulwahed, Eman; Farrell, Michael; Wright, Deborah; Martin, Jennifer; Pockney, Peter; Xu, William; Basam, Aya; Goh, Sarah; Li, Jiting; Shah, Jainil; Waraich, Abdullah; Gaborit, Lorane; [...]Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countriesView onlineSchließen
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Published in: British Journal of Surgery
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Adisa, Adewale; Bahrami-Hessari, Michael; Bhangu, Aneel; George, Christina; Ghosh, Dhruv; Glasbey, James; Haque, Parvez; Ingabire, J C Allen; Kamarajah, Sivesh Kathir; Kudrna, Laura; Ledda, Virginia; Li, Elizabeth; Lillywhite, Robert; Mittal, Rohin; Nepogodiev, Dmitri; Ntirenganya, Faustin; Picciochi, Maria; Simões, Joana Filipa Ferreira; Booth, L; Elliot, R; Kennerton, A S; Pettigrove, K L; Pinney, L; Richard, H; [...]Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countriesView onlineSchließen
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Published in: British Journal of Surgery
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Jensen, Tomas O; Grandits, Greg A; Jain, Mamta K; Murray, Thomas A; Grund, Birgit; Shaw-Saliba, Kathryn; Matthay, Michael A; Abassi, Mahsa; Ardelt, Magdalena; Baker, Jason V; Chen, Peter; Dewar, Robin L; Goodman, Anna L; Hatlen, Timothy J; Highbarger, Helene C; Holodniy, Mark; Lallemand, Perrine; Laverdure, Sylvain; Leshnower, Bradley G; Looney, David; Moschopoulos, Charalampos D; Mugerwa, Henry; Murray, Daniel D; Mylonakis, Eleftherios; [...]Effect of Neutralizing Monoclonal Antibody Treatment on Early Trajectories of Virologic and Immunologic Biomarkers in Patients Hospitalized With COVID-19View onlineSchließen
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Published in: The Journal of Infectious Diseases
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Aggarwal, Neil R; Nordwall, Jacquie; Braun, Dominique L; Chung, Lucy; Coslet, Jordan; Der, Tatyana; Eriobu, Nnakelu; Ginde, Adit A; Hayanga, Awori J; Highbarger, Helene; Holodniy, Mark; Horcajada, Juan P; Jain, Mamta K; Kim, Kami; Laverdure, Sylvain; Lundgren, Jens; Natarajan, Ven; Nguyen, Hien H; Pett, Sarah L; Phillips, Andrew; Poulakou, Garyphallia; Price, David A; Robinson, Philip; Rogers, Angela J; [...]Viral and Host Factors Are Associated With Mortality in Hospitalized Patients With COVID-19View onlineSchließen
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Published in: Clinical Infectious Diseases