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Diagnostic and interventional radiology (Ankara, Turkey), 2022-09, Vol.28 (5), p.516-521
2022
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Metabolic brain disease, 2021-08, Vol.36 (6), p.1405-1410
2021
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Metabolic brain disease, 2021-08, Vol.36 (6), p.1411-1411
2021
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Journal of clinical research in pediatric endocrinology, 2022-09, Vol.14 (3), p.275-286
2022
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International journal of pediatric otorhinolaryngology, 2014-06, Vol.78 (6), p.944-949
2014
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Turkish journal of pediatrics, 2016, Vol.58 (3), p.318-322
2016
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Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100810-100810, Article 100810
2021
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Turkish journal of pediatrics, 2018, Vol.60 (6), p.617-624
2018
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Neuromuscular disorders : NMD, 2021-06, Vol.31 (6), p.566-569
2021
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Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.126-126, Article 126
- Opladen, Thomas
- López-Laso, Eduardo
- Cortès-Saladelafont, Elisenda
- Pearson, Toni S
- Sivri, H Serap
- Yildiz, Yilmaz
- Assmann, Birgit
- Kurian, Manju A
- Leuzzi, Vincenzo
- Heales, Simon
- Pope, Simon
- Porta, Francesco
- García-Cazorla, Angeles
- Honzík, Tomáš
- Pons, Roser
- Regal, Luc
- Goez, Helly
- Artuch, Rafael
- Hoffmann, Georg F
- Horvath, Gabriella
- Thöny, Beat
- Scholl-Bürgi, Sabine
- Burlina, Alberto
- Verbeek, Marcel M
- Mastrangelo, Mario
- Friedman, Jennifer
- Wassenberg, Tessa
- Jeltsch, Kathrin
- Kulhánek, Jan
- Kuseyri Hübschmann, Oya
2020
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Turkish archives of pediatrics, 2021-11, Vol.56 (6), p.602-609
2021
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Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.235-239
2009
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Nature communications, 2021-09, Vol.12 (1), p.5529-5529, Article 5529
- 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
- Leuzzi, Vincenzo
- Hoffmann, Georg F.
- Jeltsch, Kathrin
- Hübschmann, Daniel
- Garbade, Sven F.
- Assmann, Birgit
- Fung, Cheuk-Wing
- Guder, Philipp
- Hong, Stacey Tay Kiat
- Karall, Daniela
- Kato, Mitsuhiro
- Kavecan, Ivana
- Koht, Jeanette Aimee
- Kuster, Alice
- Lücke, Thomas
- Manti, Filippo
- Mir, Pablo
- Mühlhausen, Chris
- Önenli Mungan, Halise Neslihan
- Palacios, Natalia Alexandra Julia
- Ramos, Joaquín Alejandro Fernández
- Steel, Dora
- Stevanović, Galina
- Sykut-Cegielska, Jolanta
- Verbeek, Marcel M.
- García-Cazorla, Angeles
- Opladen, Thomas
2021
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Turkish journal of pediatrics, 2015-07, Vol.57 (4), p.388
2015
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European journal of radiology, 2019-07, Vol.116, p.41-46
2019
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Journal of clinical research in pediatric endocrinology, 2022-03
2022
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European journal of medical genetics, 2020-11, Vol.63 (11), p.104032-104032, Article 104032
2020
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The Turkish journal of pediatrics, 2022, Vol.64 (3), p.413
2022
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Journal of inherited metabolic disease, 2024-03
- 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, Thomas
2024
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Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.114-126
- Burton, Barbara K.
- Hermida, Álvaro
- Bélanger-Quintana, Amaya
- Bell, Heather
- Bjoraker, Kendra J.
- Christ, Shawn E.
- Grant, Mitzie L.
- Harding, Cary O.
- Huijbregts, Stephan C.J.
- Longo, Nicola
- McNutt, Markey C.
- Nguyen-Driver, Mina D.
- Santos Pessoa, André L.
- Rocha, Júlio César
- Sacharow, Stephanie
- Sanchez-Valle, Amarilis
- Sivri, H. Serap
- Vockley, Jerry
- Walterfang, Mark
- Whittle, Sarah
- Muntau, Ania C.
2022
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Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1070-1082
- 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
- Castro, Pedro
- Alfonsi, Chiara
- Zafeiriou, Dimitrios I.
- López‐Laso, Eduardo
- Guder, Philipp
- Santer, René
- Honzík, Tomáš
- Hoffmann, Georg F.
- Garbade, Sven F.
- Sivri, H. Serap
- Leuzzi, Vincenzo
- Jeltsch, Kathrin
- García‐Cazorla, Angeles
- Opladen, Thomas
- Harting, Inga
2021
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Metabolic brain disease, 2022-08, Vol.37 (6), p.2121-2132
2022
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Turkish journal of pediatrics, 2009-03, Vol.51 (2), p.97-102
2009
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Orphanet journal of rare diseases, 2017-03, Vol.12 (1), p.47, Article 47
2017
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Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1489-1502
- 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
- Honzík, Tomáš
- Kavecan, Ivana
- Kurian, Manju A.
- Leuzzi, Vincenzo
- Lücke, Thomas
- Manzoni, Francesca
- Mastrangelo, Mario
- Mercimek‐Andrews, Saadet
- Mir, Pablo
- Oppebøen, Mari
- Pearson, Toni S.
- Sivri, H. Serap
- Steel, Dora
- Stevanović, Galina
- Fung, Cheuk‐Wing
2021
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