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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...The Journal of experimental medicine, 2022-06, Vol.219 (6)
- Duncan, Christopher J A
- Skouboe, Morten K
- Howarth, Sophie
- Hollensen, Anne K
- Chen, Rui
- Børresen, Malene L
- Thompson, Benjamin J
- Stremenova Spegarova, Jarmila
- Hatton, Catherine F
- Stæger, Frederik F
- Andersen, Mette K
- Whittaker, John
- Paludan, Søren R
- Jørgensen, Sofie E
- Thomsen, Martin K
- Mikkelsen, Jacob G
- Heilmann, Carsten
- Buhas, Daniela
- Øbro, Nina F
- Bay, Jakob T
- Marquart, Hanne V
- de la Morena, M Teresa
- Klejka, Joseph A
- Hirschfeld, Matthew
- Borgwardt, Line
- Forss, Isabel
- Masmas, Tania
- Poulsen, Anja
- Noya, Francisco
- Rouleau, Guy
- Hansen, Torben
- Zhou, Sirui
- Albrechtsen, Anders
- Alizadehfar, Reza
- Allenspach, Eric J
- Hambleton, Sophie
- Mogensen, Trine H
2022
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Frontiers in neurology, 2022-10, Vol.13
2022
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Molecular genetics and metabolism reports, 2018-06, Vol.15, p.46-49
2018
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Journal of personalized medicine, 2021-07, Vol.11 (8), p.755
2021
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JIMD Reports, Volume 45, 2019, Vol.45, p.57-63
2019
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Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e1000-n/a
2019
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Journal of pediatric gastroenterology and nutrition, 2014-12, Vol.59 (6), p.e52-e52
2014
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Neurology, 2018-05, Vol.90 (22), p.1026-1028
2018
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Journal of the neurological sciences, 2023-12, Vol.455, p.121138, Article 121138
2023
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American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3135-3138
2022
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The Journal of experimental medicine, 2021-10, Vol.218 (10)
- Lepelley, Alice
- Della Mina, Erika
- Van Nieuwenhove, Erika
- Waumans, Lise
- Fraitag, Sylvie
- Rice, Gillian I
- Dhir, Ashish
- Frémond, Marie-Louise
- Rodero, Mathieu P
- Seabra, Luis
- Carter, Edwin
- Bodemer, Christine
- Buhas, Daniela
- Callewaert, Bert
- de Lonlay, Pascale
- De Somer, Lien
- Dyment, David A
- Faes, Fran
- Grove, Lucy
- Holden, Simon
- Hully, Marie
- Kurian, Manju A
- McMillan, Hugh J
- Suetens, Kristin
- Tyynismaa, Henna
- Chhun, Stéphanie
- Wai, Timothy
- Wouters, Carine
- Bader-Meunier, Brigitte
- Crow, Yanick J
2021
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Journal of medical genetics, 2023-06, Vol.60 (6), p.523-532
2023
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Biochemical and biophysical research communications, 2019-04, Vol.512 (2), p.421-427
2019
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Movement disorders, 2013-07, Vol.28 (8), p.1054-1056
2013
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American journal of human genetics, 2016-10, Vol.99 (4), p.831-845
- Harel, Tamar
- Yoon, Wan Hee
- Garone, Caterina
- Gu, Shen
- Coban-Akdemir, Zeynep
- Eldomery, Mohammad K.
- Posey, Jennifer E.
- Jhangiani, Shalini N.
- Rosenfeld, Jill A.
- Cho, Megan T.
- Fox, Stephanie
- Withers, Marjorie
- Brooks, Stephanie M.
- Chiang, Theodore
- Duraine, Lita
- Erdin, Serkan
- Yuan, Bo
- Shao, Yunru
- Moussallem, Elie
- Lamperti, Costanza
- Donati, Maria A.
- Smith, Joshua D.
- McLaughlin, Heather M.
- Eng, Christine M.
- Walkiewicz, Magdalena
- Xia, Fan
- Pippucci, Tommaso
- Magini, Pamela
- Seri, Marco
- Zeviani, Massimo
- Hirano, Michio
- Hunter, Jill V.
- Srour, Myriam
- Zanigni, Stefano
- Lewis, Richard Alan
- Muzny, Donna M.
- Lotze, Timothy E.
- Boerwinkle, Eric
- Gibbs, Richard A.
- Hickey, Scott E.
- Graham, Brett H.
- Yang, Yaping
- Buhas, Daniela
- Martin, Donna M.
- Potocki, Lorraine
- Graziano, Claudio
- Bellen, Hugo J.
- Lupski, James R.
2016
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Paediatrics & child health, 2018-05, Vol.23 (suppl_1), p.e36-e36
2018
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European journal of paediatric neurology, 2023-05, Vol.44, p.46-50
2023
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Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192
- Coughlin, Curtis R.
- Tseng, Laura A.
- Abdenur, Jose E.
- Ashmore, Catherine
- Boemer, François
- Bok, Levinus A.
- Boyer, Monica
- Buhas, Daniela
- Clayton, Peter T.
- Das, Anibh
- Dekker, Hanka
- Evangeliou, Athanasios
- Feillet, François
- Footitt, Emma J.
- Gospe, Sidney M.
- Hartmann, Hans
- Kara, Majdi
- Kristensen, Erle
- Lee, Joy
- Lilje, Rina
- Longo, Nicola
- Lunsing, Roelineke J.
- Mills, Philippa
- Papadopoulou, Maria T.
- Pearl, Phillip L.
- Piazzon, Flavia
- Plecko, Barbara
- Saini, Arushi G.
- Santra, Saikat
- Sjarif, Damayanti R.
- Stockler‐Ipsiroglu, Sylvia
- Striano, Pasquale
- Van Hove, Johan L.K.
- Verhoeven‐Duif, Nanda M.
- Wijburg, Frits A.
- Zuberi, Sameer M.
- Karnebeek, Clara D.M.
2021
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Journal of inherited metabolic disease, 2023-11, Vol.46 (6), p.1104-1113
2023
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Journal of medical genetics, 2017-04, Vol.54 (4), p.241-247
2017
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Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.243-252
- Carrozzo, Rosalba
- Verrigni, Daniela
- Rasmussen, Magnhild
- de Coo, Rene
- Amartino, Hernan
- Bianchi, Marzia
- Buhas, Daniela
- Mesli, Samir
- Naess, Karin
- Born, Alfred Peter
- Woldseth, Berit
- Prontera, Paolo
- Batbayli, Mustafa
- Ravn, Kirstine
- Joensen, Fróði
- Cordelli, Duccio M.
- Santorelli, Filippo Maria
- Tulinius, Mar
- Darin, Niklas
- Duno, Morten
- Jouvencel, Philippe
- Burlina, Alberto
- Stangoni, Gabriela
- Bertini, Enrico
- Redonnet-Vernhet, Isabelle
- Wibrand, Flemming
- Dionisi-Vici, Carlo
- Uusimaa, Johanna
- Vieira, Paivi
- Osorio, Andrés Nascimento
- McFarland, Robert
- Taylor, Robert W.
- Holme, Elisabeth
- Ostergaard, Elsebet
2016
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Genetics in medicine, 2023-01, Vol.25 (1), p.90-102
- Saida, Ken
- Maroofian, Reza
- Sengoku, Toru
- Mitani, Tadahiro
- Pagnamenta, Alistair T.
- Marafi, Dana
- Zaki, Maha S.
- O’Brien, Thomas J.
- Karimiani, Ehsan Ghayoor
- Kaiyrzhanov, Rauan
- Takizawa, Marina
- Ohori, Sachiko
- Leong, Huey Yin
- Akay, Gulsen
- Galehdari, Hamid
- Zamani, Mina
- Romy, Ratna
- Carroll, Christopher J.
- Toosi, Mehran Beiraghi
- Ashrafzadeh, Farah
- Imannezhad, Shima
- Malek, Hadis
- Ahangari, Najmeh
- Tomoum, Hoda
- Gowda, Vykuntaraju K.
- Srinivasan, Varunvenkat M.
- Murphy, David
- Dominik, Natalia
- Elbendary, Hasnaa M.
- Rafat, Karima
- Yilmaz, Sanem
- Kanmaz, Seda
- Serin, Mine
- Krishnakumar, Deepa
- Gardham, Alice
- Maw, Anna
- Rao, Tekki Sreenivasa
- Alsubhi, Sarah
- Srour, Myriam
- Buhas, Daniela
- Jewett, Tamison
- Goldberg, Rachel E.
- Shamseldin, Hanan
- Frengen, Eirik
- Misceo, Doriana
- Strømme, Petter
- Magliocco Ceroni, José Ricardo
- Kim, Chong Ae
- Yesil, Gozde
- Sengenc, Esma
- Guler, Serhat
- Hull, Mariam
- Parnes, Mered
- Aktas, Dilek
- Anlar, Banu
- Bayram, Yavuz
- Pehlivan, Davut
- Posey, Jennifer E.
- Alavi, Shahryar
- Madani Manshadi, Seyed Ali
- Alzaidan, Hamad
- Al-Owain, Mohammad
- Alabdi, Lama
- Abdulwahab, Ferdous
- Sekiguchi, Futoshi
- Hamanaka, Kohei
- Fujita, Atsushi
- Uchiyama, Yuri
- Mizuguchi, Takeshi
- Miyatake, Satoko
- Miyake, Noriko
- Elshafie, Reem M.
- Salayev, Kamran
- Guliyeva, Ulviyya
- Alkuraya, Fowzan S.
- Gleeson, Joseph G.
- Monaghan, Kristin G.
- Langley, Katherine G.
- Yang, Hui
- Motavaf, Mahsa
- Safari, Saeid
- Alipour, Mozhgan
- Ogata, Kazuhiro
- Brown, André E.X.
- Lupski, James R.
- Houlden, Henry
- Matsumoto, Naomichi
2023
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Genetics in medicine, 2023-02, Vol.25 (2), p.100332-100332, Article 100332
- Whittle, Ella F.
- Chilian, Madison
- Karimiani, Ehsan Ghayoor
- Progri, Helga
- Buhas, Daniela
- Kose, Melis
- Ganetzky, Rebecca D.
- Toosi, Mehran Beiraghi
- Torbati, Paria Najarzadeh
- Badv, Reza Shervin
- Shelihan, Ivan
- Yang, Hui
- Elloumi, Houda Zghal
- Lee, Sukyeong
- Jamshidi, Yalda
- Pittman, Alan M.
- Houlden, Henry
- Ignatius, Erika
- Rahman, Shamima
- Maroofian, Reza
- Yoon, Wan Hee
- Carroll, Christopher J.
2023
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Endocrine, 2022, Vol.75 (1), p.48-58
2022
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Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.350-356
2022
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