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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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Case reports in pediatrics, 2021-07, Vol.2021, p.1-4
2021
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Cancers, 2022-04, Vol.14 (8), p.2000
2022
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Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.202-202, Article 202
- 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
Link zum Volltext
Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100762-100762, Article 100762
2021
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Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.12-12, Article 12
- Wassenberg, Tessa
- Molero-Luis, Marta
- Jeltsch, Kathrin
- Hoffmann, Georg F
- Assmann, Birgit
- Blau, Nenad
- Garcia-Cazorla, Angeles
- Artuch, Rafael
- Pons, Roser
- Pearson, Toni S
- Leuzzi, Vincenco
- Mastrangelo, Mario
- Pearl, Phillip L
- Lee, Wang Tso
- Kurian, Manju A
- Heales, Simon
- Flint, Lisa
- Verbeek, Marcel
- Willemsen, Michèl
- Opladen, Thomas
2017
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Neurology, 2017-05, Vol.88 (19), p.1865
2017
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Movement disorders, 2021-03, Vol.36 (3), p.690-703
- Tristán‐Noguero, Alba
- Borràs, Eva
- Molero‐Luis, Marta
- Wassenberg, Tessa
- Peters, Tessa
- Verbeek, Marcel M.
- Willemsen, Michel
- Opladen, Thomas
- Jeltsch, Kathrin
- Pons, Roser
- Thony, Beat
- Horvath, Gabriella
- Yapici, Zuhal
- Friedman, Jennifer
- Hyland, Keith
- Agosta, Guillermo E.
- López‐Laso, Eduardo
- Artuch, Rafael
- Sabidó, Eduard
- García‐Cazorla, Àngels
2021
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Pediatric nephrology (Berlin, West), 2017-07, Vol.32 (7), p.1171-1174
2017
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Pediatric nephrology (Berlin, West), 2017-07, Vol.32 (7), p.1169-1170
2017
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Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107624-107624, Article 107624
- Himmelreich, Nastassja
- Bertoldi, Mariarita
- Alfadhel, Majid
- Alghamdi, Malak Ali
- Anikster, Yair
- Bao, Xinhua
- Bashiri, Fahad A.
- Zeev, Bruria Ben
- Bisello, Giovanni
- Ceylan, Ahmet Cevdet
- Chien, Yin-Hsiu
- Choy, Yew Sing
- Elsea, Sarah H.
- Flint, Lisa
- García-Cazorla, Àngels
- Gijavanekar, Charul
- Gümüş, Emel Yılmaz
- Hamad, Muddathir H.
- Hişmi, Burcu
- Honzik, Tomas
- Hübschmann, Oya Kuseyri
- Hwu, Wuh-Liang
- Ibáñez-Micó, Salvador
- Jeltsch, Kathrin
- Juliá-Palacios, Natalia
- Kasapkara, Çiğdem Seher
- Kurian, Manju A.
- Kusmierska, Katarzyna
- Liu, Ning
- Ngu, Lock Hock
- Odom, John D.
- Ong, Winnie Peitee
- Opladen, Thomas
- Oppeboen, Mari
- Pearl, Phillip L.
- Pérez, Belén
- Pons, Roser
- Rygiel, Agnieszka Magdalena
- Shien, Tan Ee
- Spaull, Robert
- Sykut-Cegielska, Jolanta
- Tabarki, Brahim
- Tangeraas, Trine
- Thöny, Beat
- Wassenberg, Tessa
- Wen, Yongxin
- Yakob, Yusnita
- Yin, Jasmine Goh Chew
- Zeman, Jiri
- Blau, Nenad
2023
Link zum Volltext
European journal of medical genetics, 2019-12, Vol.62 (12), p.103605-103605, Article 103605
2019
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Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.554-565
2021
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Molecular genetics and metabolism, 2023-08, Vol.139 (4), p.107647-107647, Article 107647
- Himmelreich, Nastassja
- Bertoldi, Mariarita
- Alfadhel, Majid
- Alghamdi, Malak Ali
- Anikster, Yair
- Bao, Xinhua
- Bashiri, Fahad A.
- Zeev, Bruria Ben
- Bisello, Giovanni
- Ceylan, Ahmet Cevdet
- Chien, Yin-Hsiu
- Choy, Yew Sing
- Elsea, Sarah H.
- Flint, Lisa
- García-Cazorla, Àngels
- Gijavanekar, Charul
- Gümüş, Emel Yılmaz
- Hamad, Muddathir H.
- Hişmi, Burcu
- Honzik, Tomas
- Kuseyri Hübschmann, Oya
- Hwu, Wuh-Liang
- Ibáñez-Micó, Salvador
- Jeltsch, Kathrin
- Juliá-Palacios, Natalia
- Kasapkara, Çiğdem Seher
- Kurian, Manju A.
- Kusmierska, Katarzyna
- Liu, Ning
- Ngu, Lock Hock
- Odom, John D.
- Ong, Winnie Peitee
- Opladen, Thomas
- Oppeboen, Mari
- Pearl, Phillip L.
- Pérez, Belén
- Pons, Roser
- Rygiel, Agnieszka Magdalena
- Shien, Tan Ee
- Spaull, Robert
- Sykut-Cegielska, Jolanta
- Tabarki, Brahim
- Tangeraas, Trine
- Thöny, Beat
- Wassenberg, Tessa
- Wen, Yongxin
- Yakob, Yusnita
- Yin, Jasmine Goh Chew
- Zeman, Jiri
- Blau, Nenad
2023
Link zum Volltext
Parkinsonism & related disorders, 2020-05, Vol.74, p.12-15
2020
Link zum Volltext
Molecular genetics and metabolism reports, 2016-12, Vol.9, p.61-66
- Opladen, Thomas
- Cortès-Saladelafont, Elisenda
- Mastrangelo, Mario
- Horvath, Gabriella
- Pons, Roser
- Lopez-Laso, Eduardo
- Fernández-Ramos, Joaquín A.
- Honzik, Tomas
- Pearson, Toni
- Friedman, Jennifer
- Scholl-Bürgi, Sabine
- Wassenberg, Tessa
- Jung-Klawitter, Sabine
- Kuseyri, Oya
- Jeltsch, Kathrin
- Kurian, Manju A.
- Garcia-Cazorla, Àngels
2016
Link zum Volltext
Orphanet journal of rare diseases, 2017-01, Vol.12 (1)
- Wassenberg, Tessa
- Molero-Luis, Marta
- Jeltsch, Kathrin
- Hoffmann, Georg F
- Assmann, Birgit
- Blau, Nenad
- Garcia-Cazorla, Angeles
- Artuch, Rafael
- Pons, Roser
- Pearson, Toni S
- Leuzzi, Vincenco
- Mastrangelo, Mario
- Pearl, Phillip L
- Lee, Wang Tso
- Kurian, Manju A
- Heales, Simon
- Flint, Lisa
- Verbeek, Marcel
- Willemsen, Michel
- Opladen, Thomas
2017
Link zum Volltext
Acta Paediatrica, 2012-04, Vol.101 (4), p.e173-e178
2012
Link zum Volltext
Early human development, 2012-04, Vol.88 (4), p.209-216
2012
Link zum Volltext
JIMD Reports - Case and Research Reports, 2012/1, 2012-01, Vol.4, p.39-45
2012
Link zum Volltext
Case reports in pediatrics, 2021, Vol.2021, p.1798741-1798741
2021
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