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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...JIMD reports, 2024-11, Vol.65 (6), p.361-370
2024
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Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.408-23, Article 408
- Parenti, Giancarlo
- Fecarotta, Simona
- Alagia, Marianna
- Attaianese, Federica
- Verde, Alessandra
- Tarallo, Antonietta
- Gragnaniello, Vincenza
- Ziagaki, Athanasia
- Guimaraes, Maria Jose'
- Aguiar, Patricio
- Hahn, Andreas
- Azevedo, Olga
- Donati, Maria Alice
- Kiec-Wilk, Beata
- Scarpa, Maurizio
- van der Beek, Nadine A M E
- Del Toro Riera, Mireja
- Germain, Dominique P
- Huidekoper, Hidde
- van den Hout, Johanna M P
- van der Ploeg, Ans T
2024
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Orphanet journal of rare diseases, 2024-11, Vol.19 (1)
- Parenti, Giancarlo
- Fecarotta, Simona
- Alagia, Marianna
- Attaianese, Federica
- Verde, Alessandra
- Tarallo, Antonietta
- Gragnaniello, Vincenza
- Ziagaki, Athanasia
- Guimaraes, Maria Jose
- Aguiar, Patricio
- Hahn, Andreas
- Azevedo, Olga
- Donati, Maria Alice
- Kiec-Wilk, Beata
- Scarpa, Maurizio
- van der Beek, Nadine A. M. E
- Del Toro Riera, Mireja
- Germain, Dominique P
- Huidekoper, Hidde
- van den Hout, Johanna M. P
- van der Ploeg, Ans T
- Baric, Ivo
- Batzios, Spyros
- Belmatoug, Nadia
- Bordugo, Andrea
- Bosch, Annet M
- Brassier, Anais
- Burlina, Alberto
- Cassiman, David
- Chabrol, Brigitte
- Chronopoulou, Efstathia
- Couce-Pico, Maria Luz
- Darin, Niklas
- Das, Anibh M
- Debray, Francois G
- Deegan, Patrick
- de Abreu Freire Diogo Matos, Luisa M
- De Las Heras Montero, Javier
- Di Rocco, Maja
- Dobbelaere, Dries
- Eyskens, Francois
- Ferreira, Ana
- Gaspar, Ana M
- Gasperini, Serena
- López, Antonio González-Meneses
- Grosso, Salvatore
- Guffon-Fouilhoux, Nathalie
- Hennermann, Julia
- Hiwot, Tarekegn G
- Jones, Simon
- Kingma, Sandra
- Komninaka, Veroniki
- Martín-Hernández, Elena
- Martins, Esmeralda
- Miclea, Diana
- Pfliegler, György
- Rodrigues, Esmeralda
- Rokicki, Dariusz
- Roland, Dominique
- Rutsch, Frank
- Salviati, Alessandro
- Tournev, Ivailo
- Ullrich, Kurt
- van Hasselt, Peter M
- Vijay, Suresh
- Weinhold, Natalie
- Witters, Peter
- Zeman, Jiri
2024
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JIMD reports, 2024-11, Vol.65 (6), p.371-381
2024
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JIMD reports, 2024-09, Vol.65 (5), p.323-329
2024
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Croatian medical journal, 2024-06, Vol.65 (3), p.297-302
- Sedlić, Filip
- Sertić, Jadranka
- Markotić, Alemka
- Primorac, Dragan
- Slavica, Anita
- Zibar, Lada
- Vlahoviček, Kristian
- Kušec, Vesna
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- Jurić, Hrvoje
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- Projić, Petar
- Primorac, Damir
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- Vujaklija, Dušica
- Šikić, Mile
- Križanović, Krešimir
- Gamulin, Stjepan
2024
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Journal of inherited metabolic disease, 2024-05, Vol.47 (3), p.417-430
- Peters, Tessa M. A.
- Engelke, Udo F. H.
- Boer, Siebolt
- Reintjes, Joris T. G.
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- Broekman, Sanne
- Vrieze, Erik
- Wijk, Erwin
- Wamelink, Mirjam M. C.
- Artuch, Rafael
- Barić, Ivo
- Merx, Jona
- Boltje, Thomas J.
- Martens, Jonathan
- Willemsen, Michèl A. A. P.
- Verbeek, Marcel M.
- Wevers, Ron A.
- Gibson, K. Michael
- Coene, Karlien L. M.
2024
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Hepatology (Baltimore, Md.), 2024-05, Vol.79 (5), p.1075-1087
- Lenz, Dominic
- Schlieben, Lea D
- Shimura, Masaru
- Bianzano, Alyssa
- Smirnov, Dmitrii
- Kopajtich, Robert
- Berutti, Riccardo
- Adam, Rüdiger
- Aldrian, Denise
- Baric, Ivo
- Baumann, Ulrich
- Bozbulut, Neslihan E
- Brugger, Melanie
- Brunet, Theresa
- Bufler, Philip
- Burnytė, Birutė
- Calvo, Pier L
- Crushell, Ellen
- Dalgiç, Buket
- Das, Anibh M
- Dezsőfi, Antal
- Distelmaier, Felix
- Fichtner, Alexander
- Freisinger, Peter
- Garbade, Sven F
- Gaspar, Harald
- Goujon, Louise
- Hadzic, Nedim
- Hartleif, Steffen
- Hegen, Bianca
- Hempel, Maja
- Henning, Stephan
- Hoerning, Andre
- Houwen, Roderick
- Hughes, Joanne
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- Iwanicka-Pronicka, Katarzyna
- Jankofsky, Martin
- Junge, Norman
- Kanavaki, Ino
- Kansu, Aydan
- Kaspar, Sonja
- Kathemann, Simone
- Kelly, Deidre
- Kirsaçlioğlu, Ceyda T
- Knoppke, Birgit
- Kohl, Martina
- Kölbel, Heike
- Kölker, Stefan
- Konstantopoulou, Vassiliki
- Krylova, Tatiana
- Kuloğlu, Zarife
- Kuster, Alice
- Laass, Martin W
- Lainka, Elke
- Lurz, Eberhard
- Mandel, Hanna
- Mayerhanser, Katharina
- Mayr, Johannes A
- McKiernan, Patrick
- McClean, Patricia
- McLin, Valerie
- Mention, Karine
- Müller, Hanna
- Pasquier, Laurent
- Pavlov, Martin
- Pechatnikova, Natalia
- Peters, Bianca
- Petković Ramadža, Danijela
- Piekutowska-Abramczuk, Dorota
- Pilic, Denisa
- Rajwal, Sanjay
- Rock, Nathalie
- Roetig, Agnès
- Santer, René
- Schenk, Wilfried
- Semenova, Natalia
- Sokollik, Christiane
- Sturm, Ekkehard
- Taylor, Robert W
- Tschiedel, Eva
- Urbonas, Vaidotas
- Urreizti, Roser
- Vermehren, Jan
- Vockley, Jerry
- Vogel, Georg-Friedrich
- Wagner, Matias
- van der Woerd, Wendy
- Wortmann, Saskia B
- Zakharova, Ekaterina
- Hoffmann, Georg F
- Meitinger, Thomas
- Murayama, Kei
- Staufner, Christian
- Prokisch, Holger
2024
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Liječnički vjesnik, 2024-04, Vol.146 (Supp 1)
2024
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Molecules (Basel, Switzerland), 2024-04, Vol.29 (7), p.1622
2024
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Genetics in medicine, 2024-04, Vol.26 (4), p.101039, Article 101039
- Posset, Roland
- Garbade, Sven F.
- Gleich, Florian
- Scharre, Svenja
- Okun, Jürgen G.
- Gropman, Andrea L.
- Nagamani, Sandesh C.S.
- Druck, Ann-Catrin
- Epp, Friederike
- Hoffmann, Georg F.
- Kölker, Stefan
- Zielonka, Matthias
- Mew, Nicholas Ah
- Seminara, Jennifer
- Burrage, Lindsay C.
- Berry, Gerard T.
- Breilyn, Margo
- Schulze, Andreas
- Harding, Cary O.
- Berry, Susan A.
- Wong, Derek
- McCandless, Shawn E.
- Baumgartner, Matthias R.
- Konczal, Laura
- Ficicioglu, Can
- Diaz, George A.
- Coughlin, Curtis R.
- Enns, Gregory M.
- Gallagher, Renata C.
- Lam, Christina
- Stricker, Tamar
- Wilkening, Greta
- Dionisi-Vici, Carlo
- Dobbelaere, Dries
- Blasco-Alonso, Javier
- Burlina, Alberto B.
- Freisinger, Peter
- van Hasselt, Peter M.
- Skouma, Anastasia
- Lund, Allan M.
- Vara, Roshni
- Sarajlija, Adrijan
- Morris, Andrew A.
- Chakrapani, Anupam
- Barić, Ivo
- Augoustides-Savvopoulou, Persephone
- Chien, Yin-Hsiu
- Cortès-Saladelafont, Elisenda
- Eyskens, Francois
- Gramer, Gwendolyn
- Zeman, Jiri
- Karall, Daniela
- Couce, Maria L.
- Mühlhausen, Chris
- Pedrón-Giner, Consuelo
- Spiekerkoetter, Ute
- Sykut-Cegielska, Jolanta
- Wagenmakers, Margreet
- Wijburg, Frits A.
2024
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Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108118-108118, Article 108118
- Hammann, Nicole
- Lenz, Dominic
- Baric, Ivo
- Crushell, Ellen
- Vici, Carlo Dionisi
- Distelmaier, Felix
- Feillet, Francois
- Freisinger, Peter
- Hempel, Maja
- Khoreva, Anna L.
- Laass, Martin W.
- Lacassie, Yves
- Lainka, Elke
- Larson-Nath, Catherine
- Li, Zhongdie
- Lipiński, Patryk
- Lurz, Eberhard
- Mégarbané, André
- Nobre, Susana
- Olivieri, Giorgia
- Peters, Bianca
- Prontera, Paolo
- Schlieben, Lea D.
- Seroogy, Christine M.
- Sobacchi, Cristina
- Suzuki, Shigeru
- Tran, Christel
- Vockley, Jerry
- Wang, Jian-She
- Wagner, Matias
- Prokisch, Holger
- Garbade, Sven F.
- Kölker, Stefan
- Hoffmann, Georg F.
- Staufner, Christian
2024
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Frontiers in genetics, 2024-02, Vol.15, p.1355962
- Panis, Bianca
- Vos, E Naomi
- Barić, Ivo
- Bosch, Annet M
- Brouwers, Martijn C G J
- Burlina, Alberto
- Cassiman, David
- Coman, David J
- Couce, María L
- Das, Anibh M
- Demirbas, Didem
- Empain, Aurélie
- Gautschi, Matthias
- Grafakou, Olga
- Grunewald, Stephanie
- Kingma, Sandra D K
- Knerr, Ina
- Leão-Teles, Elisa
- Möslinger, Dorothea
- Murphy, Elaine
- Õunap, Katrin
- Pané, Adriana
- Paci, Sabrina
- Parini, Rossella
- Rivera, Isabel A
- Scholl-Bürgi, Sabine
- Schwartz, Ida V D
- Sdogou, Triantafyllia
- Shakerdi, Loai A
- Skouma, Anastasia
- Stepien, Karolina M
- Treacy, Eileen P
- Waisbren, Susan
- Berry, Gerard T
- Rubio-Gozalbo, M Estela
2024
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Human gene (Amsterdam, Netherlands), 2024-02, Vol.39, p.201265, Article 201265
2024
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Genetics in medicine, 2024-02, Vol.26 (2), p.101013, Article 101013
- Brunet, Theresa
- Zott, Benedikt
- Lieftüchter, Victoria
- Lenz, Dominic
- Schmidt, Axel
- Peters, Philipp
- Kopajtich, Robert
- Zaddach, Malin
- Zimmermann, Hanna
- Hüning, Irina
- Ballhausen, Diana
- Staufner, Christian
- Bianzano, Alyssa
- Hughes, Joanne
- Taylor, Robert W.
- McFarland, Robert
- Devlin, Anita
- Mihaljević, Mihaela
- Barišić, Nina
- Rohlfs, Meino
- Wilfling, Sibylle
- Sondheimer, Neal
- Hewson, Stacy
- Marinakis, Nikolaos M.
- Kosma, Konstantina
- Traeger-Synodinos, Joanne
- Elbracht, Miriam
- Begemann, Matthias
- Trepels-Kottek, Sonja
- Hasan, Dimah
- Scala, Marcello
- Capra, Valeria
- Zara, Federico
- van der Ven, Amelie T.
- Driemeyer, Joenna
- Apitz, Christian
- Krämer, Johannes
- Strong, Alanna
- Hakonarson, Hakon
- Watson, Deborah
- Mayr, Johannes A.
- Prokisch, Holger
- Meitinger, Thomas
- Borggraefe, Ingo
- Spiegler, Juliane
- Baric, Ivo
- Paolini, Marco
- Gerstl, Lucia
- Wagner, Matias
2024
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Brain communications, 2024, Vol.6 (3), p.fcae160-fcae160
- Manzoni, Eleonora
- Carli, Sara
- Gaignard, Pauline
- Schlieben, Lea Dewi
- Hirano, Michio
- Ronchi, Dario
- Gonzales, Emmanuel
- Shimura, Masaru
- Murayama, Kei
- Okazaki, Yasushi
- Barić, Ivo
- Petkovic Ramadza, Danijela
- Karall, Daniela
- Mayr, Johannes
- Martinelli, Diego
- La Morgia, Chiara
- Primiano, Guido
- Santer, René
- Servidei, Serenella
- Bris, Céline
- Cano, Aline
- Furlan, Francesca
- Gasperini, Serena
- Laborde, Nolwenn
- Lamperti, Costanza
- Lenz, Dominic
- Mancuso, Michelangelo
- Montano, Vincenzo
- Menni, Francesca
- Musumeci, Olimpia
- Nesbitt, Victoria
- Procopio, Elena
- Rouzier, Cécile
- Staufner, Christian
- Taanman, Jan-Willem
- Tal, Galit
- Ticci, Chiara
- Cordelli, Duccio Maria
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- Prokisch, Holger
- Garone, Caterina
2024
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Clinical genetics, 2023-11, Vol.104 (5), p.598-603
2023
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Human genetics, 2023-07, Vol.142 (7), p.909-925
- D’Onofrio, Gianluca
- Accogli, Andrea
- Severino, Mariasavina
- Caliskan, Haluk
- Kokotović, Tomislav
- Blazekovic, Antonela
- Jercic, Kristina Gotovac
- Markovic, Silvana
- Zigman, Tamara
- Goran, Krnjak
- Barišić, Nina
- Duranovic, Vlasta
- Ban, Ana
- Borovecki, Fran
- Ramadža, Danijela Petković
- Barić, Ivo
- Fazeli, Walid
- Herkenrath, Peter
- Marini, Carla
- Vittorini, Roberta
- Gowda, Vykuntaraju
- Bouman, Arjan
- Rocca, Clarissa
- Alkhawaja, Issam Azmi
- Murtaza, Bibi Nazia
- Rehman, Malik Mujaddad Ur
- Al Alam, Chadi
- Nader, Gisele
- Mancardi, Maria Margherita
- Giacomini, Thea
- Srivastava, Siddharth
- Alvi, Javeria Raza
- Tomoum, Hoda
- Matricardi, Sara
- Iacomino, Michele
- Riva, Antonella
- Scala, Marcello
- Madia, Francesca
- Pistorio, Angela
- Salpietro, Vincenzo
- Minetti, Carlo
- Rivière, Jean-Baptiste
- Srour, Myriam
- Efthymiou, Stephanie
- Maroofian, Reza
- Houlden, Henry
- Vernes, Sonja Catherine
- Zara, Federico
- Striano, Pasquale
- Nagy, Vanja
2023
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Genetics in medicine, 2023-06, Vol.25 (6), p.100828-100828, Article 100828
- Vogel, Georg F.
- Mozer-Glassberg, Yael
- Landau, Yuval E.
- Schlieben, Lea D.
- Prokisch, Holger
- Feichtinger, René G.
- Mayr, Johannes A.
- Brennenstuhl, Heiko
- Schröter, Julian
- Pechlaner, Agnes
- Alkuraya, Fowzan S.
- Baker, Joshua J.
- Barcia, Giulia
- Baric, Ivo
- Braverman, Nancy
- Burnyte, Birute
- Christodoulou, John
- Ciara, Elzbieta
- Coman, David
- Das, Anibh M.
- Darin, Niklas
- Della Marina, Adela
- Distelmaier, Felix
- Eklund, Erik A.
- Ersoy, Melike
- Fang, Weiyan
- Gaignard, Pauline
- Ganetzky, Rebecca D.
- Gonzales, Emmanuel
- Howard, Caoimhe
- Hughes, Joanne
- Konstantopoulou, Vassiliki
- Kose, Melis
- Kerr, Marina
- Khan, Aneal
- Lenz, Dominic
- McFarland, Robert
- Margolis, Merav Gil
- Morrison, Kevin
- Müller, Thomas
- Murayama, Kei
- Nicastro, Emanuele
- Pennisi, Alessandra
- Peters, Heidi
- Piekutowska-Abramczuk, Dorota
- Rötig, Agnès
- Santer, René
- Scaglia, Fernando
- Schiff, Manuel
- Shagrani, Mohmmad
- Sharrard, Mark
- Soler-Alfonso, Claudia
- Staufner, Christian
- Storey, Imogen
- Stormon, Michael
- Taylor, Robert W.
- Thorburn, David R.
- Teles, Elisa Leao
- Wang, Jian-She
- Weghuber, Daniel
- Wortmann, Saskia
2023
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Genetics in medicine, 2023-06, Vol.25 (6), p.100314, Article 100314
- Vogel, Georg F.
- Mozer-Glassberg, Yael
- Landau, Yuval E.
- Schlieben, Lea D.
- Prokisch, Holger
- Feichtinger, René G.
- Mayr, Johannes A.
- Brennenstuhl, Heiko
- Schröter, Julian
- Pechlaner, Agnes
- Alkuraya, Fowzan S.
- Baker, Joshua J.
- Barcia, Giulia
- Baric, Ivo
- Braverman, Nancy
- Burnyte, Birute
- Christodoulou, John
- Ciara, Elzbieta
- Coman, David
- Das, Anibh M.
- Darin, Niklas
- Della Marina, Adela
- Distelmaier, Felix
- Eklund, Erik A.
- Ersoy, Melike
- Fang, Weiyan
- Gaignard, Pauline
- Ganetzky, Rebecca D.
- Gonzales, Emmanuel
- Howard, Caoimhe
- Hughes, Joanne
- Konstantopoulou, Vassiliki
- Kose, Melis
- Kerr, Marina
- Khan, Aneal
- Lenz, Dominic
- McFarland, Robert
- Margolis, Merav Gil
- Morrison, Kevin
- Müller, Thomas
- Murayama, Kei
- Nicastro, Emanuele
- Pennisi, Alessandra
- Peters, Heidi
- Piekutowska-Abramczuk, Dorota
- Rötig, Agnès
- Santer, René
- Scaglia, Fernando
- Schiff, Manuel
- Shagrani, Mohmmad
- Sharrard, Mark
- Soler-Alfonso, Claudia
- Staufner, Christian
- Storey, Imogen
- Stormon, Michael
- Taylor, Robert W.
- Thorburn, David R.
- Teles, Elisa Leao
- Wang, Jian-She
- Weghuber, Daniel
- Wortmann, Saskia
2023
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Liječnički vjesnik, 2023-04, Vol.145 (Supp 2), p.75-75
2023
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Liječnički vjesnik, 2023-04, Vol.145 (Supp 2), p.73-73
2023
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.220-231
- Mütze, Ulrike
- Gleich, Florian
- Barić, Ivo
- Baumgartner, Mathias
- Burlina, Alberto
- Chapman, Kimberly A.
- Chien, Yin‐Hsiu
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- De Laet, Corinne
- Dobbelaere, Dries
- Eysken, Francois
- Gautschi, Matthias
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- Häberle, Johannes
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- Ruiz Gomez, Angeles
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2023
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Liječnički vjesnik, 2023-03, Vol.145 (1-2), p.1-11
2023
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Foods, 2023-02, Vol.12 (4), p.872
- Ljubičić, Marija
- Matek Sarić, Marijana
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- Rumbak, Ivana
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- Ranilović, Jasmina
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- Szűcs, Viktória
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- Bolhuis, Dieuwerke
- Guiné, Raquel P F
2023
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