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Cellular and molecular life sciences : CMLS, 2015-09, Vol.72 (17), p.3387-3399
2015
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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
- Nibbeling, Esther A R
- Duarri, Anna
- Verschuuren-Bemelmans, Corien C
- Fokkens, Michiel R
- Karjalainen, Juha M
- Smeets, Cleo J L M
- de Boer-Bergsma, Jelkje J
- van der Vries, Gerben
- Dooijes, Dennis
- Bampi, Giovana B
- van Diemen, Cleo
- Brunt, Ewout
- Ippel, Elly
- Kremer, Berry
- Vlak, Monique
- Adir, Noam
- Wijmenga, Cisca
- van de Warrenburg, Bart P C
- Franke, Lude
- Sinke, Richard J
- Verbeek, Dineke S
2017
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Genetics in medicine, 2019-10, Vol.21 (10), p.2303-2310
2019
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European journal of pediatrics, 2024-01, Vol.183 (1), p.345-355
2024
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Neuroscience and biobehavioral reviews, 2017-04, Vol.75, p.22-39
2017
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Frontiers in immunology, 2022-04, Vol.13, p.883826-883826
2022
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PloS one, 2015-03, Vol.10 (3), p.e0116599-e0116599
2015
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Clinical genetics, 2022-01, Vol.101 (1), p.65-77
2022
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Genetics in medicine, 2024-06, Vol.26 (6), p.101105, Article 101105
- Rutten, Julie W.
- Cerfontaine, Minne N.
- Dijkstra, Kyra L.
- Mulder, Aat A.
- Vreijling, Jeroen
- Kruit, Mark
- Koning, Roman I.
- de Bot, Susanne T.
- van Nieuwenhuizen, Koen M.
- Baelde, Hans J.
- Berendse, Henk W.
- Mei, Leon H.
- Ruijter, George J.G.
- Baas, Frank
- Jost, Carolina R.
- van Duinen, Sjoerd G.
- Nibbeling, Esther A.R.
- Gravesteijn, Gido
- Lesnik Oberstein, Saskia A.J.
2024
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Molecular brain, 2021-01, Vol.14 (1), p.18-18, Article 18
2021
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Biochimica et biophysica acta, 2014-08, Vol.1837 (8), p.1247-1256
2014
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Genetics in medicine, 2023-11, Vol.25 (11), p.100950-100950, Article 100950
- Bosch, Elisabeth
- Popp, Bernt
- Güse, Esther
- Skinner, Cindy
- van der Sluijs, Pleuntje J.
- Maystadt, Isabelle
- Pinto, Anna Maria
- Renieri, Alessandra
- Bruno, Lucia Pia
- Granata, Stefania
- Marcelis, Carlo
- Baysal, Özlem
- Hartwich, Dewi
- Holthöfer, Laura
- Isidor, Bertrand
- Cogne, Benjamin
- Wieczorek, Dagmar
- Capra, Valeria
- Scala, Marcello
- De Marco, Patrizia
- Ognibene, Marzia
- Jamra, Rami Abou
- Platzer, Konrad
- Carter, Lauren B.
- Kuismin, Outi
- van Haeringen, Arie
- Maroofian, Reza
- Valenzuela, Irene
- Cuscó, Ivon
- Martinez-Agosto, Julian A.
- Rabani, Ahna M.
- Mefford, Heather C.
- Pereira, Elaine M.
- Close, Charlotte
- Anyane-Yeboa, Kwame
- Wagner, Mallory
- Hannibal, Mark C.
- Zacher, Pia
- Thiffault, Isabelle
- Beunders, Gea
- Umair, Muhammad
- Bhola, Priya T.
- McGinnis, Erin
- Millichap, John
- van de Kamp, Jiddeke M.
- Prijoles, Eloise J.
- Dobson, Amy
- Shillington, Amelle
- Graham, Brett H.
- Garcia, Evan-Jacob
- Galindo, Maureen Kelly
- Ropers, Fabienne G.
- Nibbeling, Esther A.R.
- Hubbard, Gail
- Karimov, Catherine
- Goj, Guido
- Bend, Renee
- Rath, Julie
- Morrow, Michelle M.
- Millan, Francisca
- Salpietro, Vincenzo
- Torella, Annalaura
- Nigro, Vincenzo
- Kurki, Mitja
- Stevenson, Roger E.
- Santen, Gijs W.E.
- Zweier, Markus
- Campeau, Philippe M.
- Severino, Mariasavina
- Reis, André
- Accogli, Andrea
- Vasileiou, Georgia
2023
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Movement disorders, 2014-01, Vol.29 (1), p.139-143
2014
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Genetics in medicine, 2019-05, Vol.21 (5), p.1074-1082
- van der Sluijs, Pleuntje J
- Aten, Emmelien
- Barge-Schaapveld, Daniela Q C M
- Bijlsma, Emilia K
- Bökenkamp-Gramann, Regina
- Donker Kaat, Laura
- van Doorn, Remco
- van de Putte, Dietje Fransen
- van Haeringen, Arie
- Ten Harkel, Arend D J
- Hilhorst-Hofstee, Yvonne
- Hoffer, Mariette J V
- den Hollander, Nicolette S
- van Ierland, Yvette
- Koopmans, Marije
- Kriek, Marjolein
- Moghadasi, Setareh
- Nibbeling, Esther A R
- Peeters-Scholte, Cacha M P C D
- Potjer, Thomas P
- van Rij, Maartje
- Ruivenkamp, Claudia A L
- Rutten, Julie W
- Steggerda, Sylke J
- Suerink, Manon
- Tan, Ratna N G B
- van der Tuin, Karin
- Visser, Remco
- van der Werf-'t Lam, Anne-Sophie
- Williams, Monique
- Witlox, Ruben
- Santen, Gijs W E
2019
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American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3510-3515
2022
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Neurogenetics, 2013-11, Vol.14 (3-4), p.257-258
2013
Link zum Volltext
Genetics in medicine, 2019-04, Vol.21 (4), p.850-860
- Kennedy, Joanna
- Goudie, David
- Blair, Edward
- Chandler, Kate
- Joss, Shelagh
- McKay, Victoria
- Green, Andrew
- Armstrong, Ruth
- Lees, Melissa
- Kamien, Benjamin
- Hopper, Bruce
- Tan, Tiong Yang
- Yap, Patrick
- Stark, Zornitza
- Okamoto, Nobuhiko
- Miyake, Noriko
- Matsumoto, Naomichi
- Macnamara, Ellen
- Murphy, Jennifer L
- McCormick, Elizabeth
- Hakonarson, Hakon
- Falk, Marni J
- Li, Dong
- Blackburn, Patrick
- Klee, Eric
- Babovic-Vuksanovic, Dusica
- Schelley, Susan
- Hudgins, Louanne
- Kant, Sarina
- Isidor, Bertrand
- Cogne, Benjamin
- Bradbury, Kimberley
- Williams, Mark
- Patel, Chirag
- Heussler, Helen
- Duff-Farrier, Celia
- Lakeman, Phillis
- Scurr, Ingrid
- Kini, Usha
- Elting, Mariet
- Reijnders, Margot
- Schuurs-Hoeijmakers, Janneke
- Wafik, Mohamed
- Blomhoff, Anne
- Ruivenkamp, Claudia A L
- Nibbeling, Esther
- Dingemans, Alexander J M
- Douine, Emilie D
- Nelson, Stanley F
- Hempel, Maja
- Bierhals, Tatjana
- Lessel, Davor
- Johannsen, Jessika
- Arboleda, Valerie A
- Newbury-Ecob, Ruth
2019
Link zum Volltext
European journal of human genetics : EJHG, 2024-04
- Layo-Carris, Dana E
- Lubin, Emily E
- Sangree, Annabel K
- Clark, Kelly J
- Durham, Emily L
- Gonzalez, Elizabeth M
- Smith, Sarina
- Angireddy, Rajesh
- Wang, Xiao Min
- Weiss, Erin
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Damseh, Nadirah
- Velasco, Danita
- Valenzuela, Irene
- Codina-Solà, Marta
- Ziats, Catherine
- Have, Jaclyn
- Clarkson, Katie
- Steel, Dora
- Kurian, Manju
- Barwick, Katy
- Carrasco, Diana
- Dagli, Aditi I
- Nowaczyk, M J M
- Hančárová, Miroslava
- Bendová, Šárka
- Prchalova, Darina
- Sedláček, Zdeněk
- Baxová, Alica
- Nowak, Catherine Bearce
- Douglas, Jessica
- Chung, Wendy K
- Longo, Nicola
- Platzer, Konrad
- Klöckner, Chiara
- Averdunk, Luisa
- Wieczorek, Dagmar
- Krey, Ilona
- Zweier, Christiane
- Reis, Andre
- Balci, Tugce
- Simon, Marleen
- Kroes, Hester Y
- Wiesener, Antje
- Vasileiou, Georgia
- Marinakis, Nikolaos M
- Veltra, Danai
- Sofocleous, Christalena
- Kosma, Konstantina
- Traeger Synodinos, Joanne
- Voudris, Konstantinos A
- Vuillaume, Marie-Laure
- Gueguen, Paul
- Derive, Nicolas
- Colin, Estelle
- Battault, Clarisse
- Au, Billie
- Delatycki, Martin
- Wallis, Mathew
- Gallacher, Lyndon
- Majdoub, Fatma
- Smal, Noor
- Weckhuysen, Sarah
- Schoonjans, An-Sofie
- Kooy, R Frank
- Meuwissen, Marije
- Cocanougher, Benjamin T
- Taylor, Kathryn
- Pizoli, Carolyn E
- McDonald, Marie T
- James, Philip
- Roeder, Elizabeth R
- Littlejohn, Rebecca
- Borja, Nicholas A
- Thorson, Willa
- King, Kristine
- Stoeva, Radka
- Suerink, Manon
- Nibbeling, Esther
- Baskin, Stephanie
- L E Guyader, Gwenaël
- Kaplan, Julie
- Muss, Candace
- Carere, Deanna Alexis
- Bhoj, Elizabeth J K
- Bryant, Laura M
2024
Link zum Volltext
Brain (London, England : 1878), 2023-11, Vol.146 (11), p.4766-4783
- Levitin, Maria O
- Rawlins, Lettie E
- Sanchez-Andrade, Gabriela
- Arshad, Osama A
- Collins, Stephan C
- Sawiak, Stephen J
- Iffland, Phillip H
- Andersson, Malin H L
- Bupp, Caleb
- Cambridge, Emma L
- Coomber, Eve L
- Ellis, Ian
- Herkert, Johanna C
- Ironfield, Holly
- Jory, Logan
- Kretz, Perrine F
- Kant, Sarina G
- Neaverson, Alexandra
- Nibbeling, Esther
- Rowley, Christine
- Relton, Emily
- Sanderson, Mark
- Scott, Ethan M
- Stewart, Helen
- Shuen, Andrew Y
- Schreiber, John
- Tuck, Liz
- Tonks, James
- Terkelsen, Thorkild
- van Ravenswaaij-Arts, Conny
- Vasudevan, Pradeep
- Wenger, Olivia
- Wright, Michael
- Day, Andrew
- Hunter, Adam
- Patel, Minal
- Lelliott, Christopher J
- Crino, Peter B
- Yalcin, Binnaz
- Crosby, Andrew H
- Baple, Emma L
- Logan, Darren W
- Hurles, Matthew E
- Gerety, Sebastian S
2023
Link zum Volltext
Journal of neurology, 2015-05, Vol.262 (5), p.1340-1343
2015
Link zum Volltext
Genetics in medicine, 2020-11, Vol.22 (11), p.1920-1920
- Kennedy, Joanna
- Goudie, David
- Blair, Edward
- Chandler, Kate
- Joss, Shelagh
- McKay, Victoria
- Green, Andrew
- Armstrong, Ruth
- Lees, Melissa
- Kamien, Benjamin
- Hopper, Bruce
- Tan, Tiong Yang
- Yap, Patrick
- Stark, Zornitza
- Okamoto, Nobuhiko
- Miyake, Noriko
- Matsumoto, Naomichi
- Macnamara, Ellen
- Murphy, Jennifer L
- McCormick, Elizabeth
- Hakonarson, Hakon
- Falk, Marni J
- Li, Dong
- Blackburn, Patrick
- Klee, Eric
- Babovic-Vuksanovic, Dusica
- Schelley, Susan
- Hudgins, Louanne
- Kant, Sarina
- Isidor, Bertrand
- Cogne, Benjamin
- Bradbury, Kimberley
- Williams, Mark
- Patel, Chirag
- Heussler, Helen
- Duff-Farrier, Celia
- Lakeman, Phillis
- Scurr, Ingrid
- Kini, Usha
- Elting, Mariet
- Reijnders, Margot
- Schuurs-Hoeijmakers, Janneke
- Wafik, Mohamed
- Blomhoff, Anne
- Ruivenkamp, Claudia A L
- Nibbeling, Esther
- Dingemans, Alexander J M
- Douine, Emilie D
- Nelson, Stanley F
- Hempel, Maja
- Bierhals, Tatjana
- Lessel, Davor
- Johannsen, Jessika
- Arboleda, Valerie A
- Newbury-Ecob, Ruth
2020
Link zum Volltext
Human molecular genetics, 2009-06, Vol.18 (12), p.2257-2265
- Cliffe, Simon T.
- Kramer, Jamie M.
- Hussain, Khalid
- Robben, Joris H.
- de Jong, Eiko K.
- de Brouwer, Arjan P.
- Nibbeling, Esther
- Kamsteeg, Erik-Jan
- Wong, Melanie
- Prendiville, Julie
- James, Chela
- Padidela, Raja
- Becknell, Charlie
- van Bokhoven, Hans
- Deen, Peter M.T.
- Hennekam, Raoul C.M.
- Lindeman, Robert
- Schenck, Annette
- Roscioli, Tony
- Buckley, Michael F.
2009
Link zum Volltext
European journal of human genetics : EJHG, 2024-07
- Layo-Carris, Dana E
- Lubin, Emily E
- Sangree, Annabel K
- Clark, Kelly J
- Durham, Emily L
- Gonzalez, Elizabeth M
- Smith, Sarina
- Angireddy, Rajesh
- Wang, Xiao Min
- Weiss, Erin
- Toutain, Annick
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Damseh, Nadirah
- Velasco, Danita
- Valenzuela, Irene
- Codina-Solà, Marta
- Ziats, Catherine
- Have, Jaclyn
- Clarkson, Katie
- Steel, Dora
- Kurian, Manju
- Barwick, Katy
- Carrasco, Diana
- Dagli, Aditi I
- Nowaczyk, M J M
- Hančárová, Miroslava
- Bendová, Šárka
- Prchalova, Darina
- Sedláček, Zdeněk
- Baxová, Alica
- Nowak, Catherine Bearce
- Douglas, Jessica
- Chung, Wendy K
- Longo, Nicola
- Platzer, Konrad
- Klöckner, Chiara
- Averdunk, Luisa
- Wieczorek, Dagmar
- Krey, Ilona
- Zweier, Christiane
- Reis, Andre
- Balci, Tugce
- Simon, Marleen
- Kroes, Hester Y
- Wiesener, Antje
- Vasileiou, Georgia
- Marinakis, Nikolaos M
- Veltra, Danai
- Sofocleous, Christalena
- Kosma, Konstantina
- Synodinos, Joanne Traeger
- Voudris, Konstantinos A
- Vuillaume, Marie-Laure
- Gueguen, Paul
- Derive, Nicolas
- Colin, Estelle
- Battault, Clarisse
- Au, Billie
- Delatycki, Martin
- Wallis, Mathew
- Gallacher, Lyndon
- Majdoub, Fatma
- Smal, Noor
- Weckhuysen, Sarah
- Schoonjans, An-Sofie
- Kooy, R Frank
- Meuwissen, Marije
- Cocanougher, Benjamin T
- Taylor, Kathryn
- Pizoli, Carolyn E
- McDonald, Marie T
- James, Philip
- Roeder, Elizabeth R
- Littlejohn, Rebecca
- Borja, Nicholas A
- Thorson, Willa
- King, Kristine
- Stoeva, Radka
- Suerink, Manon
- Nibbeling, Esther
- Baskin, Stephanie
- Guyader, Gwenaël L E
- Kaplan, Julie
- Muss, Candace
- Carere, Deanna Alexis
- Bhoj, Elizabeth J K
- Bryant, Laura M
2024
Link zum Volltext
Genetics in medicine, 2019-04, Vol.21 (4), p.850-860
- Kennedy, Joanna
- Goudie, David
- Blair, Edward
- Chandler, Kate
- Joss Shelagh
- McKay, Victoria
- Green, Andrew
- Armstrong, Ruth
- Lees, Melissa
- Kamien, Benjamin
- Hopper, Bruce
- Yang, Tan Tiong
- Yap, Patrick
- Stark Zornitza
- Okamoto Nobuhiko
- Miyake Noriko
- Matsumoto Naomichi
- Macnamara, Ellen
- Murphy, Jennifer L
- McCormick, Elizabeth
- Hakonarson Hakon
- Falk, Marni J
- Li, Dong
- Blackburn, Patrick
- Klee, Eric
- Babovic-Vuksanovic Dusica
- Schelley, Susan
- Hudgins Louanne
- Kant Sarina
- Bertrand, Isidor
- Cogne, Benjamin
- Bradbury, Kimberley
- Williams, Mark
- Patel, Chirag
- Heussler Helen
- Duff-Farrier, Celia
- Lakeman Phillis
- Scurr, Ingrid
- Kini Usha
- Elting Mariet
- Reijnders Margot
- Schuurs-Hoeijmakers Janneke
- Wafik, Mohamed
- Blomhoff, Anne
- Ruivenkamp Claudia A L
- Nibbeling Esther
- Dingemans Alexander J M
- Douine, Emilie D
- Nelson, Stanley F
- Hempel Maja
- Bierhals Tatjana
- Lessel Davor
- Johannsen Jessika
- Arboleda, Valerie A
- Newbury-Ecob Ruth
2019
Link zum Volltext
Genetics in medicine, 2019-09, Vol.21 (9), p.2159-2164
- van der Sluijs, Pleuntje J.
- Aten, Emmelien
- Barge-Schaapveld, Daniela Q.C.M.
- Bijlsma, Emilia K.
- Bökenkamp-Gramann, Regina
- Kaat, Laura Donker
- van Doorn, Remco
- van de Putte, Dietje Fransen
- van Haeringen, Arie
- ten Harkel, Arend D.J.
- Hilhorst-Hofstee, Yvonne
- Hoffer, Mariette J.V.
- den Hollander, Nicolette S.
- van Ierland, Yvette
- Koopmans, Marije
- Kriek, Marjolein
- Moghadasi, Setareh
- Nibbeling, Esther A.R.
- Peeters-Scholte, Cacha M.P.C.D.
- Potjer, Thomas P.
- van Rij, Maartje
- Ruivenkamp, Claudia A.L.
- Rutten, Julie W.
- Steggerda, Sylke J.
- Suerink, Manon
- Tan, Ratna N.G.B.
- van der Tuin, Karin
- Visser, Remco
- van der Werf –’t Lam, Anne-Sophie
- Williams, Monique
- Witlox, Ruben
- Santen, Gijs W.E.
2019
Link zum Volltext
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