학술논문
'학술논문'
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1~10
Academic Journal
Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly AF; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje WM; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen LI; Juusola, Jane; Foss, Kimberly; Enns, Gregory M; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia AL; Hahn, Sihoun; Brownstein, Catherine A; Xia, Fan; Schmitt, Sébastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R; Thies, Jenny; Peart-Vissers, Lisenka ELM; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M; Dubourg, Christèle; Network, Undiagnosed Diseases; Tan, Wen-Hann; Verbeek, Nienke E; Granzow, Martin; Santen, Gijs WE; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W; Kleefstra, Tjitske; Cogné, Benjamin; HUGO, GEM; Study, Deciphering Developmental Disorders; Petrovski, Slavé; Retterer, Kyle
American Journal of Human Genetics. 101(5)
Academic Journal
Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, PY Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan PM; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire LS; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Study, Deciphering Developmental Disorders; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen LI; Deardorff, Matthew A
American Journal of Human Genetics. 101(1)
Electronic Resource
Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; DDD Study
Electronic Resource
Genetica Klinische Genetica; Cancer; Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; DDD Study
Electronic Resource
Genetica Klinische Genetica; Child Health; Genetica Sectie Genoomdiagnostiek; Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Proietti Onori, Martina; Latypova, Xénia; Towne, Meghan C; Cho, Megan T.; Prescott, Trine E; Ploeg, Melissa A; Sanders, Jan-Stephan; Stessman, Holly A F; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje W M; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J.; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen L I; Juusola, Jane; Verbeek, Nienke E; Undiagnosed Diseases Network
Electronic Resource
Genetica; Genetica Klinische Genetica; Child Health; Genetica Sectie Genoomdiagnostiek; Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T.; Nesbitt, Addie I; Au, P Y Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M.; Cao, Kajia; de Brouwer, Arjan P M; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A. Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L S; Verbeek, Nienke E.; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G.; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P.; Santani, Avni; van Gassen, Koen L.I.; Deardorff, Matthew A
Academic Journal
Buchert, Rebecca; Nesbitt, Addie I; Tawamie, Hasan; Krantz, Ian D; Medne, Livija; Helbig, Ingo; Matalon, Dena R; Reis, André; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami
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[AR] Nesbitt, Addie I
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