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Academic Journal
Loberti, Lorenzo ; Adamo, Loredaria ; Antolini, Enrica ; Casamassima, Giulia ; Destrèe, Anne ; Brunetti-Pierri, Nicola ; Genevieve, David ; Christophe, Philippe ; Coubes, Christine ; Van Esch, Hilde ; Herget, Theresia ; Kortüm, Fanny ; Lisfeld, Jasmin ; Möllring, Anna Charlotte ; Zenker, Martin ; Levy, Jonathan ; Perrin, Laurence ; Tabet, Anne-Claude ; Maruani, Anna ; Sorlin, Arthur ; Stieber, Daniel ; Herissant, Lucas ; Dahan, Karin ; Sinibaldi, Lorenzo ; Capolino, Rossella ; Dentici, Maria Lisa ; Dallapiccola, Bruno ; Novelli, Antonio ; Garavelli, Livia ; Caraffi, Stefano Giuseppe ; Piatelli, Gianluca ; Valenzuela, Irene ; Digilio, Maria Cristina ; Caumes, Roseline ; Knopp, Cordula ; Chwiałkowska, Karolina ; Jezela-Stanek, Aleksandra ; Kwasniewski, Miroslaw ; Korotko, Urszula ; Gorzałczyńska, Ewelina ; Canitano, Roberto ; Grosso, Salvatore ; Rahikkala, Elisa ; Mattern, Larissa ; Elbracht, Miriam ; Zuffardi, Orsetta ; Caputo, Valentina ; Toschi, Benedetta ; Beunders, Gea ; Leeuwen, Lisette ; Elting, Mariet W. ; van der Laan, Liselot ; Broekema, Marjoleine F. ; Groffen, Alexander J. ; van de Kamp, Jiddeke M. ; van Haelst, Mieke M. ; Alders, Marielle ; Mauro, Salvatore Pietro ; De Razza, Francesca ; Varvara, Dora ; Kick, Johanna ; Gaspar, Harald ; Braun, Dominique ; Lausberg, Eva ; Maier, Andrea ; Ruault, Valentin ; Genesio, Rita ; Tartaglia, Marco ; Tita, Rossella ; Bruttini, Mirella ; Longo, Ilaria ; Baldassarri, Margherita ; Mencarelli, Maria Antonietta ; Renieri, Alessandra ; Pinto, Anna Maria
In Genetics in Medicine June 2025 27(6)
Academic Journal
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
In Genetics in Medicine November 2023 25(11)
Academic Journal
Chen, Tingfang ; Rohacek, Alex M. ; Caporizzo, Matthew ; Nankali, Amir ; Smits, Jeroen J. ; Oostrik, Jaap ; Lanting, Cornelis P. ; Kücük, Erdi ; Gilissen, Christian ; van de Kamp, Jiddeke M. ; Pennings, Ronald J.E. ; Rakowiecki, Staci M. ; Kaestner, Klaus H. ; Ohlemiller, Kevin K. ; Oghalai, John S. ; Kremer, Hannie ; Prosser, Benjamin L. ; Epstein, Douglas J.
In Developmental Cell 17 May 2021 56(10):1526-1540
Academic Journal
Wesdorp, Mieke ; van de Kamp, Jiddeke M. ; Hensen, Erik F. ; Schraders, Margit ; Oostrik, Jaap ; Yntema, Helger G. ; Feenstra, Ilse ; Admiraal, Ronald J.C. ; Kunst, Henricus P.M. ; Tekin, Mustafa ; Kanaan, Moien ; Kremer, Hannie ; Pennings, Ronald J.E.
In Hearing Research April 2017 347:56-62
Academic Journal
Tessadori, Federico ; Duran, Karen ; Knapp, Karen ; Fellner, Matthias ; Smithson, Sarah ; Beleza Meireles, Ana ; Elting, Mariet W. ; Waisfisz, Quinten ; O’Donnell-Luria, Anne ; Nowak, Catherine ; Douglas, Jessica ; Ronan, Anne ; Brunet, Theresa ; Kotzaeridou, Urania ; Svihovec, Shayna ; Saenz, Margarita S. ; Thiffault, Isabelle ; Del Viso, Florencia ; Devine, Patrick ; Rego, Shannon ; Tenney, Jessica ; van Haeringen, Arie ; Ruivenkamp, Claudia A.L. ; Koene, Saskia ; Robertson, Stephen P. ; Deshpande, Charulata ; Pfundt, Rolph ; Verbeek, Nienke ; van de Kamp, Jiddeke M. ; Weiss, Janneke M.M. ; Ruiz, Anna ; Gabau, Elisabeth ; Banne, Ehud ; Pepler, Alexander ; Bottani, Armand ; Laurent, Sacha ; Guipponi, Michel ; Bijlsma, Emilia ; Bruel, Ange-Line ; Sorlin, Arthur ; Willis, Mary ; Powis, Zoe ; Smol, Thomas ; Vincent-Delorme, Catherine ; Baralle, Diana ; Colin, Estelle ; Revencu, Nicole ; Calpena, Eduardo ; Wilkie, Andrew O.M. ; Chopra, Maya ; Cormier-Daire, Valerie ; Keren, Boris ; Afenjar, Alexandra ; Niceta, Marcello ; Terracciano, Alessandra ; Specchio, Nicola ; Tartaglia, Marco ; Rio, Marlene ; Barcia, Giulia ; Rondeau, Sophie ; Colson, Cindy ; Bakkers, Jeroen ; Mace, Peter D. ; Bicknell, Louise S. ; van Haaften, Gijs
In The American Journal of Human Genetics 7 April 2022 109(4):750-758
Academic Journal
den Bakker, Emil; Smith, Desiree E. C.; Finken, Martijn J. J.; Wamelink, Mirjam M. C.; Salomons, Gajja S.; van de Kamp, Jiddeke M.; Bökenkamp, Arend
Essays in Biochemistry; Dec2024, Vol. 68 Issue 4, p391-399, 9p
Academic Journal
Rumping, Lynne; Pouwels, Petra J. W.; Wolf, Nicole I.; Rehmann, Holger; Wamelink, Mirjam M. C.; Waisfisz, Quinten; Jans, Judith J. M.; Prinsen, Hubertus C. M. T.; van de Kamp, Jiddeke M.; van Hasselt, Peter M.
Journal of Inherited Metabolic Disease Reports; May2023, Vol. 64 Issue 3, p217-222, 6p
Academic Journal
Pfau, Anja; López-Cayuqueo, Karen I.; Scherer, Nora; Wuttke, Matthias; Wernstedt, Annekatrin; Fassrainer, Daniela González; Smith, Desiree E. C.; van de Kamp, Jiddeke M.; Ziegeler, Katharina; Eckardt, Kai-Uwe; Luft, Friedrich C.; Aronson, Peter S.; Köttgen, Anna; Jentsch, Thomas J.; Knauf, Felix
Academic Journal
van de Kamp, Jiddeke M.; Bökenkamp, Arend; Smith, Desiree E. C.; Wamelink, Mirjam M. C.; Jansen, Erwin E. W.; Struys, Eduard A.; Waisfisz, Quinten; Verkleij, Marieke; Hartmann, Michaela F.; Wang, Rong; Wudy, Stefan A.; Paganini, Chiara; Rossi, Antonio; Finken, Martijn J. J.
Book
Laboratory Guide to the Methods in Biochemical Genetics ISBN: 9783031588181
Academic Journal
Van Dijk, Fleur S.; Nesbitt, Isabel M.; Nikkels, Peter G. J.; Dalton, Ann; Bongers, Ernie M. H. F.; van de Kamp, Jiddeke M.; Hilhorst-Hofstee, Yvonne; Den Hollander, Nicolette S.; Lachmeijer, Augusta M. A.; Marcelis, Carlo L.; Tan-Sindhunata, Gita M. B.; van Rijn, Rick R.; Meijers-Heijboer, Hanne; Cobben, Jan M.; Pals, Gerard
Academic Journal
van Eerde, Albertien M.; Koeleman, Bobby P. C.; van de Kamp, Jiddeke M.; de Jong, Tom P. V. M.; Wijmenga, Cisca; Giltay, Jacques C.
Academic Journal
Vermeulen, Marijn J. ; de Haas, Valerie ; Mulder, Margot F. ; Flohil, Claudie ; Fetter, Willem P.F. ; van de Kamp, Jiddeke M.
In European Journal of Medical Genetics 2009 52(6):417-420
Academic Journal
Theodore G. Drivas; Dong Li; Divya Nair; Joseph T. Alaimo; Mariëlle Alders; Janine Altmüller; Tahsin Stefan Barakat; E. Martina Bebin; Nicole L. Bertsch; Patrick R. Blackburn; Alyssa Blesson; Arjan M. Bouman; Knut Brockmann; Perrine Brunelle; Margit Burmeister; Gregory M. Cooper; Jonas Denecke; Anne Dieux-Coëslier; Holly Dubbs; Alejandro Ferrer; Danna Gal; Lauren E. Bartik; Lauren B. Gunderson; Linda Hasadsri; Mahim Jain; Catherine Karimov; Beth Keena; Eric W. Klee; Katja Kloth; Baiba Lace; Marina Macchiaiolo; Julien L. Marcadier; Jeff M. Milunsky; Melanie P. Napier; Xilma R. Ortiz-Gonzalez; Pavel N. Pichurin; Jason Pinner; Zoe Powis; Chitra Prasad; Francesca Clementina Radio; Kristen J. Rasmussen; Deborah L. Renaud; Eric T. Rush; Carol Saunders; Duygu Selcen; Ann R. Seman; Deepali N. Shinde; Erica D. Smith; Thomas Smol; Lot Snijders Blok; Joan M. Stoler; Sha Tang; Marco Tartaglia; Michelle L. Thompson; Jiddeke M. van de Kamp; Jingmin Wang; Dagmar Weise; Karin Weiss; Rixa Woitschach; Bernd Wollnik; Huifang Yan; Elaine H. Zackai; Giuseppe Zampino; Philippe Campeau; Elizabeth Bhoj
Eur J Hum Genet
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4
Paediatrics Publications
Academic Journal
Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; Pajusalu, Sander; Rudd, Pauline M.; Rustad, Cecilie F.; Salvarinova, Ramona
Journal of Inherited Metabolic Disease; May2019, Vol. 42 Issue 3, p553-564, 12p
Academic Journal
van Karnebeek, Clara D. M.; Wortmann, Saskia B.; Tarailo-Graovac, Maja; Langeveld, Mirjam; Ferreira, Carlos R.; van de Kamp, Jiddeke M.; Hollak, Carla E.; Wasserman, Wyeth W.; Waterham, Hans R.; Wevers, Ron A.; Haack, Tobias B.; Wanders, Ronald J.A.; Boycott, Kym M.
Journal of Inherited Metabolic Disease; May2018, Vol. 41 Issue 3, p571-582, 12p
Academic Journal
Bassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J.; van de Kamp, Jiddeke M.; Ziegler, Alban; Amati, Francesca; Marlin, Sandrine; Kremer, Hannie; Locher, Heiko; Maurice, Tangui; Gasparini, Paolo; Girotto, Giorgia; Reymond, Alexandre
Academic Journal
Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H.; Hudson, Cindy; Hunter, Alasdair G.W.; Johnson, John; Joss, Shelagh K.; Kimball, Amy; Kini, Usha; Kline, Antonie D.; Lauzon, Julie; Lildballe, Dorte L.; López-González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M.; Morel, Chantal F.; Morton, Jenny E.V.; Pyle, Louise C.; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E.; Schönewolf-Greulich, Bitten; Shears, Deborah J.; Silver, Josh; Smith, Amanda C.; Temple, Karen I.; van de Kamp, Jiddeke M.; van Dijk, Fleur S.; Vandersteen, Anthony M.; White, Sue M.; Zackai, Elaine H.; Zou, Ruobing; Consortium, Care4Rare Canada; Bulman, Dennis E.; Boycott, Kym M.; Lines, Matthew A.
Human Mutation. Feb 01, 2016 37(2):148-154
Academic Journal
van de Pol, Laura A.; Wolf, Nicole I.; van Weissenbruch, Mirjam M.; Stam, Cornelie J.; Weiss, Janneke M.; Waisfisz, Quinten; Kevelam, Sietske H.; Bugiani, Mariana; van de Kamp, Jiddeke M.; van der Knaap, Marjo S.
Neuropediatrics. Dec 01, 2015 46(6):392-400
Academic Journal
Pennings, Maartje; Schouten, Meyke I.; van Gaalen, Judith; Meijer, Rowdy P. P.; de Bot, Susanne T.; Kriek, Marjolein; Saris, Christiaan G. J.; van den Berg, Leonard H.; van Es, Michael A.; Zuidgeest, Dick M. H.; Elting, Mariet W.; van de Kamp, Jiddeke M.; van Spaendonck-Zwarts, Karin Y.; Die-Smulders, Christine de; Brilstra, Eva H.; Verschuuren, Corien C.; de Vries, Bert B. A.; Bruijn, Jacques; Sofou, Kalliopi; Duijkers, Floor A.; Jaeger, B.; Schieving, Jolanda H.; van de Warrenburg, Bart P.; Kamsteeg, Erik-Jan
European Journal of Human Genetics. 28(1):40-49
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[AR] van de Kamp, Jiddeke M.
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