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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...QJM : An International Journal of Medicine, 2003-12, Vol.96 (12), p.950-951
2003
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Schweizerische medizinische Wochenschrift, 1982-10, Vol.112 (40), p.1369
1982
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Genetics in medicine, 2020-01, Vol.22 (1), p.85-94
2020
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Nature communications, 2021-03, Vol.12 (1), p.1626-1626, Article 1626
- Baxley, Ryan M
- Leung, Wendy
- Schmit, Megan M
- Matson, Jacob Peter
- Yin, Lulu
- Oram, Marissa K
- Wang, Liangjun
- Taylor, John
- Hedberg, Jack
- Rogers, Colette B
- Harvey, Adam J
- Basu, Debashree
- Taylor, Jenny C
- Pagnamenta, Alistair T
- Dreau, Helene
- Craft, Jude
- Ormondroyd, Elizabeth
- Watkins, Hugh
- Hendrickson, Eric A
- Mace, Emily M
- Orange, Jordan S
- Aihara, Hideki
- Stewart, Grant S
- Blair, Edward
- Cook, Jeanette Gowen
- Bielinsky, Anja-Katrin
2021
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American journal of human genetics, 2014-02, Vol.94 (2), p.278-287
- Howard, Malcolm F.
- Murakami, Yoshiko
- Pagnamenta, Alistair T.
- Daumer-Haas, Cornelia
- Fischer, Björn
- Hecht, Jochen
- Keays, David A.
- Knight, Samantha J.L.
- Kölsch, Uwe
- Krüger, Ulrike
- Leiz, Steffen
- Maeda, Yusuke
- Mitchell, Daphne
- Mundlos, Stefan
- Phillips, John A.
- Robinson, Peter N.
- Kini, Usha
- Taylor, Jenny C.
- Horn, Denise
- Kinoshita, Taroh
- Krawitz, Peter M.
2014
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Journal of medical genetics, 2023-05, Vol.60 (5), p.505-510
- Pagnamenta, Alistair T
- Yu, Jing
- Evans, Julie
- Twiss, Philip
- Offiah, Amaka C
- Wafik, Mohamed
- Mehta, Sarju G
- Javaid, Mohammed K
- Smithson, Sarah F
- Taylor, Jenny C
- Ambrose, J C
- Arumugam, P
- Bevers, R
- Bleda, M
- Boardman-Pretty, F
- Boustred, C R
- Brittain, H
- Caulfield, M J
- Chan, G C
- Elgar, G
- Fowler, T
- Giess, A
- Hamblin, A
- Henderson, S
- Hubbard, T J P
- Jackson, R
- Jones, L J
- Kasperaviciute, D
- Kayikci, M
- Kousathanas, A
- Lahnstein, L
- Leigh, S E A
- Leong, I U S
- Lopez, J F
- Maleady-Crowe, F
- McEntagart, M
- Minneci, F
- Moutsianas, L
- Mueller, M
- Murugaesu, N
- Need, A C
- O’Donovan, P
- Odhams, C A
- Patch, C
- Pereira, M B
- Perez-Gil, D
- Pullinger, J
- Rahim, T
- Rendon, A
- Rogers, T
- Savage, K
- Sawant, K
- Scott, R H
- Siddiq, A
- Sieghart, A
- Smith, S C
- Sosinsky, A
- Stuckey, Alexander
- Tanguy, M
- Taylor-Tavares, A L
- Thomas, E R A
- Thompson, S R
- Tucci, A
- Welland, M J
- Williams, E
- Witkowska, K
- Wood, S M
- Balasubramanian, M
- Bubbear, J
- Burren, C
- Calder, A
- Fairhurst, J
- Gevers, E
- Hunt, D
- Irving, M
- Javaid, MK
- Mohsin, Z
- Offiah, A C
- Pagnamenta, AT
- Sabir, A
- Shears, D
- Smithson, S F
- Suri, M
- Taylor, JC
- Wilkie, A
- Wilson, L
2023
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European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.669-679
2017
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Neuron (Cambridge, Mass.), 2018-12, Vol.100 (6), p.1354-1368.e5
- Tripathy, Ratna
- Leca, Ines
- van Dijk, Tessa
- Weiss, Janneke
- van Bon, Bregje W.
- Sergaki, Maria Christina
- Gstrein, Thomas
- Breuss, Martin
- Tian, Guoling
- Bahi-Buisson, Nadia
- Paciorkowski, Alexander R.
- Pagnamenta, Alistair T.
- Wenninger-Weinzierl, Andrea
- Martinez-Reza, Maria Fernanda
- Landler, Lukas
- Lise, Stefano
- Taylor, Jenny C.
- Terrone, Gaetano
- Vitiello, Giuseppina
- Del Giudice, Ennio
- Brunetti-Pierri, Nicola
- D’Amico, Alessandra
- Reymond, Alexandre
- Voisin, Norine
- Bernstein, Jonathan A.
- Farrelly, Ellyn
- Kini, Usha
- Leonard, Thomas A.
- Valence, Stéphanie
- Burglen, Lydie
- Armstrong, Linlea
- Hiatt, Susan M.
- Cooper, Gregory M.
- Aldinger, Kimberly A.
- Dobyns, William B.
- Mirzaa, Ghayda
- Pierson, Tyler Mark
- Baas, Frank
- Chelly, Jamel
- Cowan, Nicholas J.
- Keays, David Anthony
2018
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Neurology, 2016-07, Vol.87 (1), p.77-85
- Balestrini, Simona
- Milh, Mathieu
- Castiglioni, Claudia
- Lüthy, Kevin
- Finelli, Mattea J
- Verstreken, Patrik
- Cardon, Aaron
- Stražišar, Barbara Gnidovec
- Holder, Jr, J Lloyd
- Lesca, Gaetan
- Mancardi, Maria M
- Poulat, Anne L
- Repetto, Gabriela M
- Banka, Siddharth
- Bilo, Leonilda
- Birkeland, Laura E
- Bosch, Friedrich
- Brockmann, Knut
- Cross, J Helen
- Doummar, Diane
- Félix, Temis M
- Giuliano, Fabienne
- Hori, Mutsuki
- Hüning, Irina
- Kayserili, Hulia
- Kini, Usha
- Lees, Melissa M
- Meenakshi, Girish
- Mewasingh, Leena
- Pagnamenta, Alistair T
- Peluso, Silvio
- Mey, Antje
- Rice, Gregory M
- Rosenfeld, Jill A
- Taylor, Jenny C
- Troester, Matthew M
- Stanley, Christine M
- Ville, Dorothee
- Walkiewicz, Magdalena
- Falace, Antonio
- Fassio, Anna
- Lemke, Johannes R
- Biskup, Saskia
- Tardif, Jessica
- Ajeawung, Norbert F
- Tolun, Aslihan
- Corbett, Mark
- Gecz, Jozef
- Afawi, Zaid
- Howell, Katherine B
- Oliver, Karen L
- Berkovic, Samuel F
- Scheffer, Ingrid E
- de Falco, Fabrizio A
- Oliver, Peter L
- Striano, Pasquale
- Zara, Federico
- Campeau, Phillipe M
- Sisodiya, S M
2016
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Neuromuscular disorders : NMD, 2021-01, Vol.31 (1), p.21-28
2021
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American journal of human genetics, 2021-01, Vol.108 (1), p.115-133
- Lin, Yuh-Charn
- Niceta, Marcello
- Muto, Valentina
- Vona, Barbara
- Pagnamenta, Alistair T.
- Maroofian, Reza
- Beetz, Christian
- van Duyvenvoorde, Hermine
- Dentici, Maria Lisa
- Lauffer, Peter
- Vallian, Sadeq
- Ciolfi, Andrea
- Pizzi, Simone
- Bauer, Peter
- Grüning, Nana-Maria
- Bellacchio, Emanuele
- Del Fattore, Andrea
- Petrini, Stefania
- Shaheen, Ranad
- Tiosano, Dov
- Halloun, Rana
- Pode-Shakked, Ben
- Albayrak, Hatice Mutlu
- Işık, Emregül
- Wit, Jan M.
- Dittrich, Marcus
- Freire, Bruna L.
- Bertola, Debora R.
- Jorge, Alexander A.L.
- Barel, Ortal
- Sabir, Ataf H.
- Al Tenaiji, Amal M.J.
- Taji, Sulaima M.
- Al-Sannaa, Nouriya
- Al-Abdulwahed, Hind
- Digilio, Maria Cristina
- Irving, Melita
- Anikster, Yair
- Bhavani, Gandham S.L.
- Girisha, Katta M.
- Haaf, Thomas
- Taylor, Jenny C.
- Dallapiccola, Bruno
- Alkuraya, Fowzan S.
- Yang, Ruey-Bing
- Tartaglia, Marco
2021
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Clinical genetics, 2019-06, Vol.95 (6), p.693-703
- Pagnamenta, Alistair T.
- Kaisaki, Pamela J.
- Bennett, Fenella
- Burkitt‐Wright, Emma
- Martin, Hilary C.
- Ferla, Matteo P.
- Taylor, John M.
- Gompertz, Lianne
- Lahiri, Nayana
- Tatton‐Brown, Katrina
- Newbury‐Ecob, Ruth
- Henderson, Alex
- Joss, Shelagh
- Weber, Astrid
- Carmichael, Jenny
- Turnpenny, Peter D.
- McKee, Shane
- Forzano, Francesca
- Ashraf, Tazeen
- Bradbury, Kimberley
- Shears, Deborah
- Kini, Usha
- de Burca, Anna
- Blair, Edward
- Taylor, Jenny C.
- Stewart, Helen
2019
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Journal of medical genetics, 2023-12, Vol.60 (12), p.1235-1244
2023
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Human molecular genetics, 2014-06, Vol.23 (12), p.3200-3211
- Martin, Hilary C
- Kim, Grace E
- Pagnamenta, Alistair T
- Murakami, Yoshiko
- Carvill, Gemma L
- Meyer, Esther
- Copley, Richard R
- Rimmer, Andrew
- Barcia, Giulia
- Fleming, Matthew R
- Kronengold, Jack
- Brown, Maile R
- Hudspith, Karl A
- Broxholme, John
- Kanapin, Alexander
- Cazier, Jean-Baptiste
- Kinoshita, Taroh
- Nabbout, Rima
- Bentley, David
- McVean, Gil
- Heavin, Sinéad
- Zaiwalla, Zenobia
- McShane, Tony
- Mefford, Heather C
- Shears, Deborah
- Stewart, Helen
- Kurian, Manju A
- Scheffer, Ingrid E
- Blair, Edward
- Donnelly, Peter
- Kaczmarek, Leonard K
- Taylor, Jenny C
2014
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Human molecular genetics, 2010-10, Vol.19 (20), p.4072-4082
- Pinto, Dalila
- Regan, Regina
- Magalhaes, Tiago R.
- Abrahams, Brett S.
- Pagnamenta, Alistair T.
- Almeida, Joana
- Bailey, Anthony J.
- Baird, Gillian
- Battaglia, Agatino
- Bolshakova, Nadia
- Bölte, Sven
- Bolton, Patrick F.
- Brennan, Sean
- Carson, Andrew R.
- Casallo, Guillermo
- Chu, Su H.
- Cochrane, Lynne
- Dawson, Geraldine
- de Jonge, Maretha
- Delorme, Richard
- Duketis, Eftichia
- Duque, Frederico
- Estes, Annette
- Fernandez, Bridget A.
- Fombonne, Eric
- Freitag, Christine M.
- Glessner, Joseph T.
- Goldberg, Jeremy
- Green, Jonathan
- Heron, Elizabeth A.
- Holt, Richard
- Hughes, Gillian
- Hus, Vanessa
- Kim, Cecilia
- Korvatska, Olena
- Kustanovich, Vlad
- Lajonchere, Clara M.
- Leboyer, Marion
- Leventhal, Bennett L.
- Liu, Xiao-Qing
- Lord, Catherine
- Lotspeich, Linda
- Marshall, Christian R.
- McConachie, Helen
- McMahon, William M.
- Melhem, Nadine M.
- Merikangas, Alison
- Migita, Ohsuke
- Munson, Jeff
- Nelson, Stanley F.
- Noakes, Carolyn
- Noor, Abdul
- Nygren, Gudrun
- Papanikolaou, Katerina
- Parr, Jeremy R.
- Poustka, Annemarie
- Poustka, Fritz
- Prasad, Aparna
- Renshaw, Katy
- Rickaby, Jessica
- Roberts, Wendy
- Roge, Bernadette
- Bierut, Laura J.
- Rice, John P.
- Salt, Jeff
- Sansom, Katherine
- Sato, Daisuke
- Segurado, Ricardo
- Shah, Naisha
- Sheffield, Val C.
- Soorya, Latha
- Stoppioni, Vera
- Tancredi, Raffaella
- Thompson, Ann P.
- Thomson, Susanne
- Tryfon, Ana
- Van Engeland, Herman
- Wang, Kai
- Wang, Zhouzhi
- Wassink, Thomas H.
- Wittemeyer, Kerstin
- Wood, Shawn
- Yaspan, Brian L.
- Zurawiecki, Danielle
- Buxbaum, Joseph D.
- Cantor, Rita M.
- Cook, Edwin H.
- Coon, Hilary
- Cuccaro, Michael L.
- Gallagher, Louise
- Geschwind, Daniel H.
- Gill, Michael
- Haines, Jonathan L.
- Paterson, Andrew D.
- Sutcliffe, James S.
- Szatmari, Peter
- Vicente, Astrid M.
- Wijsman, Ellen M.
- Devlin, Bernie
- Hallmayer, Joachim
2010
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Frontiers in immunology, 2019-06, Vol.10, p.1150
2019
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American journal of human genetics, 2019-08, Vol.105 (2), p.283-301
- Haijes, Hanneke A.
- Koster, Maria J.E.
- Rehmann, Holger
- Li, Dong
- Hakonarson, Hakon
- Cappuccio, Gerarda
- Hancarova, Miroslava
- Lehalle, Daphne
- Reardon, Willie
- Schaefer, G. Bradley
- Lehman, Anna
- van de Laar, Ingrid M.B.H.
- Tesselaar, Coranne D.
- Turner, Clesson
- Goldenberg, Alice
- Patrier, Sophie
- Thevenon, Julien
- Pinelli, Michele
- Brunetti-Pierri, Nicola
- Prchalová, Darina
- Havlovicová, Markéta
- Vlckova, Markéta
- Sedláček, Zdeněk
- Lopez, Elena
- Ragoussis, Vassilis
- Pagnamenta, Alistair T.
- Kini, Usha
- Vos, Harmjan R.
- van Es, Robert M.
- van Schaik, Richard F.M.A.
- van Essen, Ton A.J.
- Kibaek, Maria
- Taylor, Jenny C.
- Sullivan, Jennifer
- Shashi, Vandana
- Petrovski, Slave
- Fagerberg, Christina
- Martin, Donna M.
- van Gassen, Koen L.I.
- Pfundt, Rolph
- Falk, Marni J.
- McCormick, Elizabeth M.
- Timmers, H.T. Marc
- van Hasselt, Peter M.
2019
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Genetics in medicine, 2019-10, Vol.21 (10), p.2216-2223
- Bayat, Allan
- Knaus, Alexej
- Juul, Annika Wollenberg
- Dukic, Dejan
- Gardella, Elena
- Charzewska, Agnieszka
- Clement, Emma
- Hjalgrim, Helle
- Hoffman-Zacharska, Dorota
- Horn, Denise
- Horton, Rachel
- Hurst, Jane A
- Josifova, Dragana
- Larsen, Line H G
- Lascelles, Karine
- Obersztyn, Ewa
- Pagnamenta, Alistair
- Pal, Deb K
- Pendziwiat, Manuela
- Ryten, Mina
- Taylor, Jenny
- Vogt, Julie
- Weber, Yvonne
- Krawitz, Peter M
- Helbig, Ingo
- Kini, Usha
- Møller, Rikke S
2019
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Annals of clinical and translational neurology, 2023-10, Vol.10 (10), p.1910-1916
2023
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RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
- Maroofian, Reza
- Sarraf, Payam
- O'Brien, Thomas J
- Kamel, Mona
- Cakar, Arman
- Elkhateeb, Nour
- Lau, Tracy
- Patil, Siddaramappa Jagdish
- Record, Christopher J
- Horga, Alejandro
- Essid, Miriam
- Selim, Laila
- Benrhouma, Hanene
- Ben Younes, Thouraya
- Zifarelli, Giovanni
- Pagnamenta, Alistair T
- Bauer, Peter
- Khundadze, Mukhran
- Mirecki, Andrea
- Kamel, Sara Mahmoud
- Elmonem, Mohamed A
- Ghayoor Karimiani, Ehsan
- Jamshidi, Yalda
- Offiah, Amaka C
- Rossor, Alexander M
- Youssef-Turki, Ilhem Ben
- Hübner, Christian A
- Munot, Pinki
- Reilly, Mary M
- Brown, André E X
- Nagy, Sara
- Houlden, Henry
2024
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Digestive and liver disease, 2022-05, Vol.54 (5), p.565-571
2022
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Genome medicine, 2019-07, Vol.11 (1), p.46-46, Article 46
2019
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Human molecular genetics, 2019-10, Vol.28 (20), p.3391-3405
- Pagnamenta, Alistair T
- Heemeryck, Pierre
- Martin, Hilary C
- Bosc, Christophe
- Peris, Leticia
- Uszynski, Ivy
- Gory-Fauré, Sylvie
- Couly, Simon
- Deshpande, Charu
- Siddiqui, Ata
- Elmonairy, Alaa A
- Jayawant, Sandeep
- Murthy, Sarada
- Walker, Ian
- Loong, Lucy
- Bauer, Peter
- Vossier, Frédérique
- Denarier, Eric
- Maurice, Tangui
- Barbier, Emmanuel L
- Deloulme, Jean-Christophe
- Taylor, Jenny C
- Blair, Edward M
- Andrieux, Annie
- Moutin, Marie-Jo
2019
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Journal of bone and mineral research, 2016-06, Vol.31 (6), p.1207-1214
2016
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Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600
- Pagnamenta, Alistair T
- Kaiyrzhanov, Rauan
- Zou, Yaqun
- Da'as, Sahar I
- Maroofian, Reza
- Donkervoort, Sandra
- Dominik, Natalia
- Lauffer, Marlen
- Ferla, Matteo P
- Orioli, Andrea
- Giess, Adam
- Tucci, Arianna
- Beetz, Christian
- Sedghi, Maryam
- Ansari, Behnaz
- Barresi, Rita
- Basiri, Keivan
- Cortese, Andrea
- Elgar, Greg
- Fernandez-Garcia, Miguel A
- Yip, Janice
- Foley, A Reghan
- Gutowski, Nicholas
- Jungbluth, Heinz
- Lassche, Saskia
- Lavin, Tim
- Marcelis, Carlo
- Marks, Peter
- Marini-Bettolo, Chiara
- Medne, Livija
- Moslemi, Ali-Reza
- Sarkozy, Anna
- Reilly, Mary M
- Muntoni, Francesco
- Millan, Francisca
- Muraresku, Colleen C
- Need, Anna C
- Nemeth, Andrea H
- Neuhaus, Sarah B
- Norwood, Fiona
- O'Donnell, Marie
- O'Driscoll, Mary
- Rankin, Julia
- Yum, Sabrina W
- Zolkipli-Cunningham, Zarazuela
- Brusius, Isabell
- Wunderlich, Gilbert
- Karakaya, Mert
- Wirth, Brunhilde
- Fakhro, Khalid A
- Tajsharghi, Homa
- Bönnemann, Carsten G
- Taylor, Jenny C
- Houlden, Henry
2021
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