Sortiert nach
American journal of human genetics, 2013-06, Vol.92 (6), p.965-973
- Oates, Emily C.
- Rossor, Alexander M.
- Hafezparast, Majid
- Gonzalez, Michael
- Speziani, Fiorella
- MacArthur, Daniel G.
- Lek, Monkol
- Cottenie, Ellen
- Scoto, Mariacristina
- Foley, A. Reghan
- Hurles, Matthew
- Houlden, Henry
- Greensmith, Linda
- Auer-Grumbach, Michaela
- Pieber, Thomas R.
- Strom, Tim M.
- Schule, Rebecca
- Herrmann, David N.
- Sowden, Janet E.
- Acsadi, Gyula
- Menezes, Manoj P.
- Clarke, Nigel F.
- Züchner, Stephan
- Muntoni, Francesco
- North, Kathryn N.
- Reilly, Mary M.
2013
Link zum Volltext
American journal of human genetics, 2016-11, Vol.99 (5), p.1086-1105
- O’Grady, Gina L.
- Best, Heather A.
- Sztal, Tamar E.
- Schartner, Vanessa
- Sanjuan-Vazquez, Myriam
- Donkervoort, Sandra
- Abath Neto, Osorio
- Sutton, Roger Bryan
- Ilkovski, Biljana
- Romero, Norma Beatriz
- Stojkovic, Tanya
- Dastgir, Jahannaz
- Waddell, Leigh B.
- Boland, Anne
- Hu, Ying
- Williams, Caitlin
- Ruparelia, Avnika A.
- Maisonobe, Thierry
- Peduto, Anthony J.
- Reddel, Stephen W.
- Lek, Monkol
- Tukiainen, Taru
- Cummings, Beryl B.
- Joshi, Himanshu
- Nectoux, Juliette
- Brammah, Susan
- Deleuze, Jean-François
- Ing, Viola Oorschot
- Ramm, Georg
- Ardicli, Didem
- Nowak, Kristen J.
- Talim, Beril
- Topaloglu, Haluk
- Laing, Nigel G.
- North, Kathryn N.
- MacArthur, Daniel G.
- Friant, Sylvie
- Clarke, Nigel F.
- Bryson-Richardson, Robert J.
- Bönnemann, Carsten G.
- Laporte, Jocelyn
- Cooper, Sandra T.
2016
Link zum Volltext
Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.117-117, Article 117
2013
Link zum Volltext
NPJ Genomic Medicine, 2017-03, Vol.2 (1), p.1-7, Article 4
2017
Link zum Volltext
European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.452-457
2011
Link zum Volltext
Brain (London, England : 1878), 2012-06, Vol.135 (Pt 6), p.1714-1723
2012
Link zum Volltext
American journal of human genetics, 2013-12, Vol.93 (6), p.1108-1117
- Gupta, Vandana A.
- Ravenscroft, Gianina
- Shaheen, Ranad
- Todd, Emily J.
- Swanson, Lindsay C.
- Shiina, Masaaki
- Ogata, Kazuhiro
- Hsu, Cynthia
- Clarke, Nigel F.
- Darras, Basil T.
- Farrar, Michelle A.
- Hashem, Amal
- Manton, Nicholas D.
- Muntoni, Francesco
- North, Kathryn N.
- Sandaradura, Sarah A.
- Nishino, Ichizo
- Hayashi, Yukiko K.
- Sewry, Caroline A.
- Thompson, Elizabeth M.
- Yau, Kyle S.
- Brownstein, Catherine A.
- Yu, Timothy W.
- Allcock, Richard J.N.
- Davis, Mark R.
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Alkuraya, Fowzan S.
- Laing, Nigel G.
- Beggs, Alan H.
2013
Link zum Volltext
American journal of human genetics, 2013-07, Vol.93 (1), p.6-18
- Ravenscroft, Gianina
- Miyatake, Satoko
- Lehtokari, Vilma-Lotta
- Todd, Emily J.
- Vornanen, Pauliina
- Yau, Kyle S.
- Hayashi, Yukiko K.
- Miyake, Noriko
- Tsurusaki, Yoshinori
- Doi, Hiroshi
- Saitsu, Hirotomo
- Osaka, Hitoshi
- Yamashita, Sumimasa
- Ohya, Takashi
- Sakamoto, Yuko
- Koshimizu, Eriko
- Imamura, Shintaro
- Yamashita, Michiaki
- Ogata, Kazuhiro
- Shiina, Masaaki
- Bryson-Richardson, Robert J.
- Vaz, Raquel
- Ceyhan, Ozge
- Brownstein, Catherine A.
- Swanson, Lindsay C.
- Monnot, Sophie
- Romero, Norma B.
- Amthor, Helge
- Kresoje, Nina
- Sivadorai, Padma
- Kiraly-Borri, Cathy
- Haliloglu, Goknur
- Talim, Beril
- Orhan, Diclehan
- Kale, Gulsev
- Charles, Adrian K.
- Fabian, Victoria A.
- Davis, Mark R.
- Lammens, Martin
- Sewry, Caroline A.
- Manzur, Adnan
- Muntoni, Francesco
- Clarke, Nigel F.
- North, Kathryn N.
- Bertini, Enrico
- Nevo, Yoram
- Willichowski, Ekkhard
- Silberg, Inger E.
- Topaloglu, Haluk
- Beggs, Alan H.
- Allcock, Richard J.N.
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Laing, Nigel G.
2013
Link zum Volltext
The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708
- Yuen, Michaela
- Sandaradura, Sarah A
- Dowling, James J
- Kostyukova, Alla S
- Moroz, Natalia
- Quinlan, Kate G
- Lehtokari, Vilma-Lotta
- Ravenscroft, Gianina
- Todd, Emily J
- Ceyhan-Birsoy, Ozge
- Gokhin, David S
- Maluenda, Jérome
- Lek, Monkol
- Nolent, Flora
- Pappas, Christopher T
- Novak, Stefanie M
- D'Amico, Adele
- Malfatti, Edoardo
- Thomas, Brett P
- Gabriel, Stacey B
- Gupta, Namrata
- Daly, Mark J
- Ilkovski, Biljana
- Houweling, Peter J
- Davidson, Ann E
- Swanson, Lindsay C
- Brownstein, Catherine A
- Gupta, Vandana A
- Medne, Livija
- Shannon, Patrick
- Martin, Nicole
- Bick, David P
- Flisberg, Anders
- Holmberg, Eva
- Van den Bergh, Peter
- Lapunzina, Pablo
- Waddell, Leigh B
- Sloboda, Darcée D
- Bertini, Enrico
- Chitayat, David
- Telfer, William R
- Laquerrière, Annie
- Gregorio, Carol C
- Ottenheijm, Coen A C
- Bönnemann, Carsten G
- Pelin, Katarina
- Beggs, Alan H
- Hayashi, Yukiko K
- Romero, Norma B
- Laing, Nigel G
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Melki, Judith
- Fowler, Velia M
- MacArthur, Daniel G
- North, Kathryn N
- Clarke, Nigel F
2014
Link zum Volltext
Orphanet journal of rare diseases, 2015-11, Vol.10 (148), p.148-148, Article 148
- Todd, Emily J
- Yau, Kyle S
- Ong, Royston
- Slee, Jennie
- McGillivray, George
- Barnett, Christopher P
- Haliloglu, Goknur
- Talim, Beril
- Akcoren, Zuhal
- Kariminejad, Ariana
- Cairns, Anita
- Clarke, Nigel F
- Freckmann, Mary-Louise
- Romero, Norma B
- Williams, Denise
- Sewry, Caroline A
- Colley, Alison
- Ryan, Monique M
- Kiraly-Borri, Cathy
- Sivadorai, Padma
- Allcock, Richard J N
- Beeson, David
- Maxwell, Susan
- Davis, Mark R
- Laing, Nigel G
- Ravenscroft, Gianina
2015
Link zum Volltext
Brain (London, England : 1878), 2015-04, Vol.138 (Pt 4), p.836-844
2015
Link zum Volltext
Brain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.293-310
- Rossor, Alexander M
- Oates, Emily C
- Salter, Hannah K
- Liu, Yang
- Murphy, Sinead M
- Schule, Rebecca
- Gonzalez, Michael A
- Scoto, Mariacristina
- Phadke, Rahul
- Sewry, Caroline A
- Houlden, Henry
- Jordanova, Albena
- Tournev, Iyailo
- Chamova, Teodora
- Litvinenko, Ivan
- Zuchner, Stephan
- Herrmann, David N
- Blake, Julian
- Sowden, Janet E
- Acsadi, Gyuda
- Rodriguez, Michael L
- Menezes, Manoj P
- Clarke, Nigel F
- Auer Grumbach, Michaela
- Bullock, Simon L
- Muntoni, Francesco
- Reilly, Mary M
- North, Kathryn N
2015
Link zum Volltext
Human molecular genetics, 2015-11, Vol.24 (21), p.6146-6159
- Ilkovski, Biljana
- Pagnamenta, Alistair T
- O'Grady, Gina L
- Kinoshita, Taroh
- Howard, Malcolm F
- Lek, Monkol
- Thomas, Brett
- Turner, Anne
- Christodoulou, John
- Sillence, David
- Knight, Samantha J L
- Popitsch, Niko
- Keays, David A
- Anzilotti, Consuelo
- Goriely, Anne
- Waddell, Leigh B
- Brilot, Fabienne
- North, Kathryn N
- Kanzawa, Noriyuki
- Macarthur, Daniel G
- Taylor, Jenny C
- Kini, Usha
- Murakami, Yoshiko
- Clarke, Nigel F
2015
Link zum Volltext
Human molecular genetics, 2015-11, Vol.24 (22), p.6278-6292
2015
Link zum Volltext
European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.801-808
2014
Link zum Volltext
Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.494-507
- MOKBEL, Nancy
- ILKOVSKI, Biljana
- MENARD, Dominique
- MARCORELLES, Pascale
- ECHANIZ-LAGUNA, Andoni
- REIMANN, Jens
- VAINZOF, Mariz
- MONNIER, Nicole
- RAVENSCROFT, Gianina
- MCNAMARA, Elyshia
- NOWAK, Kristen J
- LAING, Nigel G
- KREISSL, Michaela
- WALLGREN-PETTERSSON, Carina
- TREWHELLA, Jill
- MARSTON, Steve
- OTTENHEIJM, Coen
- NORTH, Kathryn N
- CLARKE, Nigel F
- MEMO, Massimiliano
- JEFFRIES, Cy M
- MARTTILA, Minttu
- LEHTOKARI, Vilma-Lotta
- LEMOLA, Elina
- GRÖNHOLM, Mikaela
- NAN YANG
2013
Link zum Volltext
Journal of medical genetics, 2013-06, Vol.50 (6), p.383-392
2013
Link zum Volltext
Journal of neuropathology and experimental neurology, 2011-04, Vol.70 (4), p.302-313
2011
Link zum Volltext
The Journal of clinical investigation, 2015-01, Vol.125 (1), p.456-457
- Yuen, Michaela
- Sandaradura, Sarah A
- Dowling, James J
- Kostyukova, Alla S
- Moroz, Natalia
- Quinlan, Kate G
- Lehtokari, Vilma-Lotta
- Ravenscroft, Gianina
- Todd, Emily J
- Ceyhan-Birsoy, Ozge
- Gokhin, David S
- Maluenda, Jérome
- Lek, Monkol
- Nolent, Flora
- Pappas, Christopher T
- Novak, Stefanie M
- D'Amico, Adele
- Malfatti, Edoardo
- Thomas, Brett P
- Gabriel, Stacey B
- Gupta, Namrata
- Daly, Mark J
- Ilkovski, Biljana
- Houweling, Peter J
- Davidson, Ann E
- Swanson, Lindsay C
- Brownstein, Catherine A
- Gupta, Vandana A
- Medne, Livija
- Shannon, Patrick
- Martin, Nicole
- Bick, David P
- Flisberg, Anders
- Holmberg, Eva
- Van den Bergh, Peter
- Lapunzina, Pablo
- Waddell, Leigh B
- Sloboda, Darcée D
- Bertini, Enrico
- Chitayat, David
- Telfer, William R
- Laquerrière, Annie
- Gregorio, Carol C
- Ottenheijm, Coen A C
- Bönnemann, Carsten G
- Pelin, Katarina
- Beggs, Alan H
- Hayashi, Yukiko K
- Romero, Norma B
- Laing, Nigel G
- Nishino, Ichizo
- Wallgren-Pettersson, Carina
- Melki, Judith
- Fowler, Velia M
- MacArthur, Daniel G
- North, Kathryn N
- Clarke, Nigel F
2015
Link zum Volltext
The Journal of biological chemistry, 2014-10, Vol.289 (41), p.28138-28148
2014
Link zum Volltext
European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.883-886
2015
Link zum Volltext
Neurology. Genetics, 2021-02, Vol.7 (1), p.e554-e554
- Waddell, Leigh B
- Bryen, Samantha J
- Cummings, Beryl B
- Bournazos, Adam
- Evesson, Frances J
- Joshi, Himanshu
- Marshall, Jamie L
- Tukiainen, Taru
- Valkanas, Elise
- Weisburd, Ben
- Sadedin, Simon
- Davis, Mark R
- Faiz, Fathimath
- Gooding, Rebecca
- Sandaradura, Sarah A
- O'Grady, Gina L
- Tchan, Michel C
- Mowat, David R
- Oates, Emily C
- Farrar, Michelle A
- Sampaio, Hugo
- Ma, Alan
- Neas, Katherine
- Wang, Min-Xia
- Charlton, Amanda
- Chan, Charles
- Kenwright, Diane N
- Graf, Nicole
- Arbuckle, Susan
- Clarke, Nigel F
- MacArthur, Daniel G
- Jones, Kristi J
- Lek, Monkol
- Cooper, Sandra T
2021
Link zum Volltext
European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1216-1219
2016
Link zum Volltext
Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.e392-e392
- Rossor, Alexander M
- Oates, Emily C
- Salter, Hannah K
- Liu, Yang
- Murphy, Sinead M
- Schule, Rebecca
- Gonzales, Michael A
- Scoto, Mariacristina
- Phadke, Rahul
- Sewry, Caroline A
- Houlden, Henry
- Jordanova, Albena
- Tournev, Iyailo
- Chamova, Teodora
- Litvinenko, Ivan
- Zuchner, Stephan
- Herrmann, David N
- Blake, Julian
- Sowden, Janet E
- Acsadi, Gyuda
- Rodriguez, Michael L
- Menezes, Manoj P
- Clarke, Nigel F
- Auer Grumbach, Michaela
- Bullock, Simon L
- Muntoni, Francesco
- Reilly, Mary M
- North, Kathryn N
2015
Link zum Volltext
Journal of neuropathology and experimental neurology, 2003-10, Vol.62 (10), p.977-989
2003
Link zum Volltext
Aktive Filter
Suchergebnisse filtern
Filter anzeigenNur zeigen
Publikationsform
Erscheinungsjahr
n.n
n.n
Thema
Kollektion
- Free E-Journal (出版社公開部分のみ）
- MEDLINE
- Ingenta
- Journals@Ovid Ovid Full Text
- Oxford Journals
- Oxford Journals 2020 Medicine
- Publisher or Other Site
- IngentaConnect Journals
- Springer Nature - Connect here FIRST to enable access
- Elsevier ScienceDirect Journals Complete
- SpringerLink_现刊
- JSTOR
- Wiley Online Library Journals Frontfile Complete
- Wiley Online Library
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Applied Social Sciences Index & Abstracts (ASSIA)
- Nexis
- American Mathematical Society Publications
- BMJ Journals
Zeitschrift / Serie