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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...Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.50-50, Article 50
- Geberhiwot, Tarekegn
- Moro, Alessandro
- Dardis, Andrea
- Ramaswami, Uma
- Sirrs, Sandra
- Marfa, Mercedes Pineda
- Vanier, Marie T
- Walterfang, Mark
- Bolton, Shaun
- Dawson, Charlotte
- Héron, Bénédicte
- Stampfer, Miriam
- Imrie, Jackie
- Hendriksz, Christian
- Gissen, Paul
- Crushell, Ellen
- Coll, Maria J
- Nadjar, Yann
- Klünemann, Hans
- Mengel, Eugen
- Hrebicek, Martin
- Jones, Simon A
- Ory, Daniel
- Bembi, Bruno
- Patterson, Marc
2018
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Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.51-51, Article 51
2022
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Pediatric emergency care, 2011-11, Vol.27 (11), p.1062-1064
2011
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American journal of human genetics, 2019-04, Vol.104 (4), p.721-730
- Salpietro, Vincenzo
- Malintan, Nancy T.
- Llano-Rivas, Isabel
- Spaeth, Christine G.
- Efthymiou, Stephanie
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- Vandrovcova, Jana
- Cutrupi, Maria C.
- Chimenz, Roberto
- David, Emanuele
- Di Rosa, Gabriella
- Marce-Grau, Anna
- Raspall-Chaure, Miquel
- Martin-Hernandez, Elena
- Zara, Federico
- Minetti, Carlo
- Kriouile, Yamna
- El Khorassani, Mohamed
- Aguennouz, Mhammed
- Karashova, Blagovesta
- Avdjieva, Daniela
- Kathom, Hadil
- Tincheva, Radka
- Van Maldergem, Lionel
- Nachbauer, Wolfgang
- Boesch, Sylvia
- Arning, Larissa
- Timmann, Dagmar
- Cormand, Bru
- Pérez-Dueñas, Belen
- Pironti, Erica
- Goraya, Jatinder S.
- Sultan, Tipu
- Kirmani, Salman
- Ibrahim, Shahnaz
- Jan, Farida
- Mine, Jun
- Banu, Selina
- Veggiotti, Pierangelo
- Ferrari, Michel D.
- Verrotti, Alberto
- Marseglia, Gian Luigi
- Savasta, Salvatore
- Garavaglia, Barbara
- Scuderi, Carmela
- Borgione, Eugenia
- Dipasquale, Valeria
- Cutrupi, Maria Concetta
- Portaro, Simona
- Sanchez, Benigno Monteagudo
- Pineda-Marfa’, Mercedes
- Munell, Francina
- Macaya, Alfons
- Boles, Richard
- Heimer, Gali
- Papacostas, Savvas
- Manole, Andreea
- Malintan, Nancy
- Zanetti, Maria Natalia
- Hanna, Michael G.
- Rothman, James E.
- Kullmann, Dimitri M.
- Houlden, Henry
- Bello, Oscar D.
- De Zorzi, Rita
- Fortuna, Sara
- Dauber, Andrew
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- Mankad, Kshitij
- Vitobello, Antonio
- Thomas, Quentin
- Mau-Them, Frederic Tran
- Faivre, Laurence
- Martinez-Azorin, Francisco
- Prada, Carlos E.
- Krishnakumar, Shyam S.
2019
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American journal of human genetics, 2020-03, Vol.106 (3), p.412-421
- Schottlaender, Lucia V.
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- Jaunmuktane, Zane
- Macmillan, Carol
- Chelban, Viorica
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- McKinley, John
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- Dauvilliers, Yves A.
- Striano, Pasquale
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- Mendes de Oliveira, João Ricardo
- de Grandis, Maria
- Richard-Loendt, Angela
- Launchbury, Francesca
- Althonayan, Juri
- McDonnell, Gavin
- Carr, Aisling
- Khan, Suliman
- Beetz, Christian
- Bisgin, Atil
- Tug Bozdogan, Sevcan
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- Torti, Erin
- Greensmith, Linda
- Giunti, Paola
- Morrison, Patrick J.
- Brandner, Sebastian
- Aurrand-Lions, Michel
- Houlden, Henry
2020
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Neurology, 2014-11, Vol.83 (21), p.1898-1905
- Wolf, Nicole I
- Vanderver, Adeline
- van Spaendonk, Rosalina M L
- Schiffmann, Raphael
- Brais, Bernard
- Bugiani, Marianna
- Sistermans, Erik
- Catsman-Berrevoets, Coriene
- Kros, Johan M
- Pinto, Pedro Soares
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- Fribourg, Sébastien
- Demos, Michelle
- Pizzino, Amy
- Naidu, Sakkubai
- Guerrero, Kether
- van der Knaap, Marjo S
- Bernard, Geneviève
2014
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Brain (London, England : 1878), 2019-10, Vol.142 (10), p.2948-2964
- Efthymiou, Stephanie
- Salpietro, Vincenzo
- Malintan, Nancy
- Poncelet, Mallory
- Kriouile, Yamna
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- De Zorzi, Rita
- Payne, Katelyn
- Henderson, Lindsay B
- Cortese, Andrea
- Maddirevula, Sateesh
- Alhashmi, Nadia
- Wiethoff, Sarah
- Ryten, Mina
- Botia, Juan A
- Provitera, Vincenzo
- Schuelke, Markus
- Vandrovcova, Jana
- Walsh, Laurence
- Torti, Erin
- Iodice, Valeria
- Najafi, Maryam
- Karimiani, Ehsan Ghayoor
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- Boddaert, Nathalie
- De Lonlay, Pascale
- Cantagrel, Vincent
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- Schmidts, Miriam
- Alkuraya, Fowzan S
- Edvardson, Simon
- Nolano, Maria
- Devaux, Jérôme
- Houlden, Henry
2019
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Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2388-2397
- Neuray, Caroline
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- Scala, Marcello
- Sultan, Tipu
- Pai, Gurpur S
- Mojarrad, Majid
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- deHoll, Leigh
- Yue, Wyatt
- Alsaif, Hessa S
- Zanetti, Maria N
- Bello, Oscar
- Person, Richard
- Eslahi, Atieh
- Khazaei, Zaynab
- Feizabadi, Masoumeh H
- Efthymiou, Stephanie
- El-Bassyouni, Hala T
- Soliman, Doaa R
- Tekes, Selahattin
- Ozer, Leyla
- Baltaci, Volkan
- Khan, Suliman
- Beetz, Christian
- Amr, Khalda S
- Salpietro, Vincenzo
- Jamshidi, Yalda
- Alkuraya, Fowzan S
- Houlden, Henry
2020
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The journal of clinical endocrinology and metabolism, 2021-02, Vol.106 (2), p.e660-e674
- Pelletier, Félixe
- Cayami, Ferdy K
- Mirchi, Amytice
- Saikali, Stephan
- Tran, Luan T
- Ulrick, Nicole
- van Spaendonk, Rosalina M L
- Naidu, Sakkubai
- Pohl, Daniela
- Gibson, William T
- Demos, Michelle
- Goizet, Cyril
- Tejera-Martin, Ingrid
- Potic, Ana
- Fogel, Brent L
- Brais, Bernard
- Sylvain, Michel
- Sébire, Guillaume
- Lourenço, Charles Marques
- Catsman-Berrevoets, Coriene
- Pinto, Pedro S
- Tirupathi, Sandya
- Strømme, Petter
- Gieruszczak-Bialek, Dorota
- Krägeloh-Mann, Ingeborg
- Mierzewska, Hanna
- Philippi, Heike
- Rankin, Julia
- Atik, Tahir
- Banwell, Brenda
- Benko, William S
- Blaschek, Astrid
- Bley, Annette
- Boltshauser, Eugen
- Bratkovic, Drago
- Brozova, Klara
- Cimas, Icíar
- Clough, Christopher
- Dinopoulos, Argirios
- Dolan, Gail
- Faletra, Flavio
- Fernandez, Raymond
- Fletcher, Janice
- Garcia Garcia, Maria Eugenia
- Gasparini, Paolo
- Gburek-Augustat, Janina
- Gonzalez Moron, Dolores
- Hamati, Aline
- Harting, Inga
- Hertzberg, Christoph
- Hill, Alan
- Kauffman, Marcelo
- Kluger, Gerhard
- Kotzaeridou, Urania
- La Piana, Roberta
- Liston, Eriskay
- McClintock, William
- McEntagart, Meriel
- McKenzie, Fiona
- Melançon, Serge
- Misbahuddin, Anjum
- Suri, Mohnish
- Monton, Fernando I
- Murphy, Raymond P J
- Nickel, Miriam
- Onay, Hüseyin
- Orcesi, Simona
- Özkınay, Ferda
- Patzer, Steffi
- Pedro, Helio
- Pineda Marfa, Mercedes
- Pizzino, Amy
- Plecko, Barbara
- Poll-The, Bwee Tien
- Popovic, Vera
- Rating, Dietz
- Rioux, Marie-France
- Ronan, Anne
- Ostergaard, John R
- Rossignol, Elsa
- Sanchez-Carpintero, Rocio
- Schossig, Anna
- Sønderberg Roos, Laura K
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- Sztriha, László
- Tibussek, Daniel
- Timmann, Dagmar
- Tonduti, Davide
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- Venkateswaran, Sunita
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- Bernard, Geneviève
2021
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Journal of medical genetics, 2021-12, Vol.58 (12), p.815-831
- De Nittis, Pasquelena
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- Sarre, Alexandre
- Guex, Nicolas
- Chrast, Jacqueline
- Putoux, Audrey
- Sultan, Tipu
- Raza Alvi, Javeria
- ur Rahman, Zia
- Zafar, Faisal
- Rana, Nuzhat
- Rahman, Fatima
- Anwar, Najwa
- Maqbool, Shazia
- Zaki, Maha S
- Gleeson, Joseph G
- Murphy, David
- Galehdari, Hamid
- Shariati, Gholamreza
- Mazaheri, Neda
- Sedaghat, Alireza
- Lesca, Gaetan
- Chatron, Nicolas
- Salpietro, Vincenzo
- Christoforou, Marilena
- Houlden, Henry
- Simonds, William F
- Pedrazzini, Thierry
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- Reymond, Alexandre
- Groppa, Stanislav
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- Nachbauer, Wolfgang
- Boesch, Sylvia
- Arning, Larissa
- Timmann, Dagmar
- Cormand, Bru
- Pérez-Dueñas, Belen
- Goraya, Jatinder S
- Mine, Jun
- Avdjieva, Daniela
- Kathom, Hadil
- Tincheva, Radka
- Banu, Selina
- Pineda-Marfa, Mercedes
- Veggiotti, Pierangelo
- Ferrari, Michel D
- Maagdenberg, Arn M J M van den
- Verrotti, Alberto
- Marseglia, Giangluigi
- Savasta, Salvatore
- García-Silva, Mayte
- Ruiz, Alfons Macaya
- Garavaglia, Barbara
- Borgione, Eugenia
- Portaro, Simona
- Sanchez, Benigno Monteagudo
- Boles, Richard
- Papacostas, Savvas
- Vikelis, Michail
- Papanicolaou, Eleni Zamba
- Dardiotis, Efthymios
- Ibrahim, Shahnaz
- Kirmani, Salman
- Rana, Nuzhat Noureen
- Atawneh, Osama
- Koutsis, George
- Mangano, Salvatore
- Scuderi, Carmela
- Morello, Giovanna
- Stojkovic, Tanya
- Zollo, Massimo
- Heimer, Gali
- Dauvilliers, Yves A
- Striano, Pasquale
- Al-Khawaja, Issam
- Al-Mutairi, Fuad
- Sherifa, Hamed
2021
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PloS one, 2016-02, Vol.11 (2), p.e0148709-e0148709
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2016
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Archives of neurology (Chicago), 2011-05, Vol.68 (5), p.615
2011
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Revista de neurologiá, 2002-07, Vol.35 (2), p.119
2002
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