학술논문
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'학술논문'
에서 검색결과 216건 | 목록
1~20
Academic Journal
Tutty, Erin; Kanga-Parabia, Anaita; Kugenthiran, Nathasha; Caruana, Jade; Downie, Lilian; Gaff, Clara; Lang, Nitzan; Lunke, Sebastian; Scarff, Katrina; Stark, Zornitza; Best, Stephanie; Archibald, Alison D.
European Journal of Human Genetics. :1-8
Academic Journal
Mighton, Chloe; Jan, Alli; Lee, Ling; Bouffler, Sophie; Downie, Lilian; Clausen, Marc; Gaff, Clara; Bombard, Yvonne; Stark, Zornitza; Martyn, Melissa
European Journal of Human Genetics. :1-8
Academic Journal
Riccarda Peters; Stephanie Best; Fiona Lynch; Danya F. Vears; Lilian Downie; Alison D. Archibald; Sebastian Lunke; Zornitza Stark; Ilias Goranitis
Am J Hum Genet
Academic Journal
Lunke, Sebastian; Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; De Fazio, Paul; Hollizeck, Sebastian; Bouffler, Sophie E.; Amor, David J.; Archibald, Alison D.; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; Fagan, Wendy; Gaff, Clara; Greaves, Ronda F.; Gyngell, Christopher; Kanga-Parabia, Anaita; Lang, Nitzan; Lee, Crystle; Lynch, Fiona; Marty, Anthony; Marty, Melanie; McGregor, Candice; Riseley, Jessica; Sadedin, Simon; Scarff, Katrina; da Cunha Torres, Michelle; Tutty, Erin; Vang, Ching; Wall, Meaghan; Wong, Ee Ming; Yeung, Alison; Goranitis, Ilias; Best, Stephanie; Vears, Danya F.; Stark, Zornitza
Nature Medicine. :1-10
Academic Journal
Adelson, Sophia; Agolini, Emanuele; Al-Maraghi, Aljazi; Alex, Karla; Alkuraya, Fowzan; Akil, Ammira Alshabeeb; Alshehri, Munira; Ansel, Derek; Armstrong, Niki; Aujla, Matthew; Bailey, Don; Baker, Mei; Balciuniene, Jorune; Barry, Andrew; Bennetts, Bruce; Berenger, Melissa; Berg, Jonathan; Bernstein, Donna; Bhatatcharjee, Arindam; Bhatt, Sucheta; Bick, David; Bishop, Tracey; Bitton, Asaf; Boemer, François; Bonhomme, Natasha; Bowley, George; Boyd, Brenna; Brennenstuhl, Heiko; Brenner, Steven; Bresnahan, Mairead; Brewster, Thomas; Brooks, P.J.; Broomberg, Katya; Brower, Amy; Gentile, Mattia; Giordano, Jessica; Jensen, Ulrich Glumer; Godler, David; Gold, Nina; Goldenberg, Aaron; GoldenGrant, Katie; Goldman, Cassie; González de Aledo-Castillo, José Manuel; Gottlieb, Daniel; Green, Robert; Greene, Christopher; Greenstein, Brooke; Grosse, Scott; Grueters, Annette; Gumus, Gulcin; Hagman, Kelly; Hall, Kevin; Harmant, Aymeric; Hartmanis, Sally; Hayeems, Robin; Heald, Rose; Hegde, Madhuri; Heiner-Fokkema, Rebecca; Henneman, Lidewij; Hernan, Becca; Hobbs, Charlotte; Holm, Ingrid; Horwitz, Layla; Hu, Zhanzhi; Iascone, Maria; Irvine, Ken; Jin, Guanjun; Kalbfleisch, Kelsey; Nyegaard, Mette; O'Sullivan, Justin; Ojodu, Jelili; Orsini, Paola; Oza, Andrea; Paleologos, Katrina; Parad, Richard; Peay, Holly; Pelo, Matthew; Philstrom, Carolyn; Pichard, Dominique; Pichini, Amanda; Pirreca, Michelle; Ponikowska, Malgorzata; Ponte, Amy; Posch, Andreas; Powell, Cynthia; Protopsaltis, Liana; Quevedo, Yeyson; Raia, Marianna; Reimer, Rebecca; Rohrwasser, Andy; Rollier, Paul; Rottensten, Lene; Rtskhiladze, Irakli; Sachedina, Nabihah; Sahyoun, George; Satija, Aditi; Schaaf, Christian; Schleit, Jennifer; Scott, Richard; Scully, Lauren; Seeloff, Stacey; Brown, Gemma; Buchanan, James; Bupp, Caleb; Cameron, Candance; Capacchione, Lauren; Carli, Diana; Ceballo, Onassis Castillo; Chan, Kee; Chance, Jillian; Charalambidou, Georgia; Chen, Winnie; Chen, Yun-Ru; Chung, Wendy; Chung, Brian; Clarke, Megan; Clasper, Susan; Cole, F. Sessions; Cope, Heidi; Coury, Stephanie; Cox, Tony; Dangouloff, Tamara; Paul Daniel, Earnest James; Danielsen, Katrin Eivindardottir; Davoine, Emeline; Defay, Tom; Gandhi, Geethanjali Devadoss; Dewulf, Joseph; Diller, Lisa; Dixit, Pakhi; Dolle, Martijn; Downie, Lilian; Drake, Erin; Drury, Suzanne; Duintjer, Annelotte; Duz, Bugrahan; Eckstein, David; Ellinwood, Matthew; Kander, Ines; Kaplun, Lucy; Kasperaviciute, Dalia; Kassahn, Karin; Kauko, Leni; Kaukonen, Riina; Kelly, Nicole; Khangsar, Dhayo; King, Jovanka; Kingsley, Clare; Kingsmore, Stephen; Kirms, Brian; Klein, Rachel; Koelker, Stefan; Kousa, Youssef; Krupoderova, Elizaveta; Kruszka, Paul; Langley, Katherine; Leckie, Ciara; Lecommandeur, Emmanuelle; Ledbetter, David; Lee, Pamela; Lee, Beomhee; Leve, Camille; Lewis, Celine; Lewis, Anna; Liu, Ruby; Longon, Mauro; Lundquist, Alberte; Lunke, Sebastian; MacDuffie, Kate; Malhotra, Ankit; Marcelis, Lionel; Martinez-Fresno, Maria; Matthijs, Gert; Melbardis, Roberts; Merritt, Jessica; Servais, Laurent; Shah, Nidhi; Siitonen, Maija; Singh, Sikha; Siu, Carol; Smith, Hadley; King, Lisa Sniderman; Sondheimer, Neal; St George, Lourdes; Stark, Zornitza; Steiner, Robert; Stoltze, Ulrik; Stray-Pedersen, Asbjørg; Sund, Kristen; Tafas, Paris; Teekakirikul, Polakit; Thanos, Dimitrios; Thurm, Audrey; To, Meekai; Tsipouras, Petros; Tuff-Lacey, Alice; Turner, Heather; Twiss, Philip; Ulph, Fiona; Uribe, Daniel; Urv, Tiina; Vacher, Cora; Van Den Bogaert, Kris; van der Burg, Mirjam; Van Steijvoort, Eva; Veloudi, Yiota; Vengoechea, Elizabeth; Voorhoeve, Els; Vu, Martin; Wasserstein, Melissa; Watson, Michael; Webb, Bryn; Ellsworth, Katarzyna; Badji, Radja Messai; Wedell, Anna; Elsea, Sarah; Metherell, Lou; Westover, Thomas; Encina, Nicolas; Mikkelsen, Nanna Balle; Wiedemann, Alexandra; Etheredge, Harriet; Milko, Laura; Wright, Meredith; Faivre, Laurence; Miller, Nicole; Wu, Cindy; Ferlini, Alessandra; Minten, Thomas; Yeo, Julie; Ferrie, Monica; Morgan, Sian; Yin-Hsiu Chien, Nancy; Finkel, Terri; Mosiewicz, Katarzyna; Yusuff, Shamila; Furu, Petra; Mütze, Ulrike; Zemojtel, Tomasz; Galarza-Cornejo, Jamie; Nicklen, Sukhvinder; Zettler, Bethany; Gao, Ya; Niemela, Minna; Zhao, Zhengyan; Garcia-Villoria, Judit; Niu, Dau-Ming; Ziff, Joanna; Gardner, Liz; Norris, Sarah; Zimmerman, Rebekah; Gaviglio, Amy; Novelli, Antonio; Zuccolo, Michela; Gelb, Michael; Nusair, Arwa; Berg, Jonathan S. ; Chung, Wendy K. ; Cope, Heidi L. ; Eckstein, David J. ; García-Villoria, Judit ; Gelb, Michael H. ; González De Aledo-Castillo, José Manuel ; Golden-Grant, Katie ; Parad, Richard B. ; Sund, Kristen L. ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine January 2026 28(1)
Academic Journal
Zornitza Stark; Sebastian Lunke; Lilian Downie; Jade Caruana; Nathasha Kugenthiran; Paul De Fazio; Sebastian Hollizeck; Sophie Bouffler; David Amor; Alison Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Wendy Fagan; Clara Gaff; Ronda Greaves; Christopher Gyngell; Anaita Kanga-Parabia; Nitzan Lang; Crystle Lee; Fiona Lynch; Anthony Marty; Melanie Marty; Candice McGregor; Jessica Riseley; Simon Sadedin; Katrina Scarffe; Michelle da Cunha Torres; Erin Tutty; Ching Vang; Meaghan Wall; Ee Ming Wong; Alison Yeung; Ilias Goranitis; Stephanie Best; Danya Vears
Academic Journal
Zygmunt, Aldona; Ververi, Athina; Siu, Carol; Ponzi, Emanuela; Bertini, Enrico; Xinwen, Huang; King, Jovanka; Kassahn, Karin; Koutsogianni, Maria; Valente, Maria Luisa; Pelo, Matthew J.; Gentile, Mattia; Orsini, Paola; Ficarella, Romina; Sansen, Stefaan; Rui, Xiao; Zhengyan, Zhao; Goldenberg, Aaron; Satija, Aditi; Lundquist, Alberte; Ferlini, Alessandra; Wiedemann, Alexandra; Tuff-Lacey, Alice; Al-Maraghi, Aljazi; Pichini, Amanda; Akil, Ammira Alshabeeb; Brower, Amy; Gaviglio, Amy; Ponte, Amy; Oza, Andrea; Posch, Andreas; Barry, Andrew; Rohrwasser, Andy; Malhotra, Ankit; Lewis, Anna; Wedell, Anna; Duintjer, Annelotte; Grueters, Annette; Novelli, Antonio; Bhatatcharjee, Arindam; Nusair, Arwa; Bitton, Asaf; Stray-Pedersen, Asbjørg; Thurm, Audrey; Harmant, Aymeric; Hernan, Becca; Lee, Beomhee; Zettler, Bethany; Boyd, Brenna; Chung, Brian; Kirmse, Brian; Greenstein, Brooke; Bennetts, Bruce; Webb, Bryn; Duz, Bugrahan; Bupp, Caleb; Level, Camille; Cameron, Candance; Philstrom, Carolyn; Goldman, Cassie; Lewis, Celine; Hobbs, Charlotte; Schaaf, Christian; Greene, Christopher; Leckie, Ciara; Wu, Cindy; Kingsley, Clare; Vacher, Cora; Powell, Cynthia; Kasperaviciute, Dalia; Gottlieb, Daniel; Uribe, Daniel; Niu, Dau-Ming; Bick, David; Eckstein, David; Godler, David; Ledbetter, David; Ansel, Derek; Khangsar, Dhayo; Carli, Diana; Thanos, Dimitrios; Pichard, Dominique; Bailey, Don; Bernstein, Donna; Paul Daniel, Earnest James; Vengoechea, Elizabeth; Krupoderova, Elizaveta; Voorhoeve, Els; Agolini, Emanuele; Davoine, Emeline; Lecommandeur, Emmanuelle; Drake, Erin; Van Steijvoort, Eva; Cole, F. Sessions; Ulph, Fiona; Alkuraya, Fowzan; Boemer, François; Gandhi, Geethanjali Devadoss; Brown, Gemma; Bowley, George; Sahyoun, George; Charalambidou, Georgia; Matthijs, Gert; Jin, Guanjun; Gumus, Gulcin; Smith, Hadley; Etheredge, Harriet; Turner, Heather; Cope, Heidi; Brennenstuhl, Heiko; Peay, Holly; Pickering, Holly; Kander, Ines; Holm, Ingrid; Rtskhiladze, Irakli; Buchanan, James; Galarza-Cornejo, Jamie; Ojodu, Jelili; Schleit, Jennifer; Giordano, Jessica; Merritt, Jessica; Chance, Jillian; Ziff, Joanna; Berg, Jonathan; Balciuniene, Jorune; González de Aledo-Castillo, José Manuel; Dewulf, Joseph; Garcia-Villoria, Judit; Yeo, Julie; O'Sullivan, Justin; Alex, Karla; Ellsworth, Katarzyna; Mosiewicz, Katarzyna; MacDuffie, Kate; Langley, Katherine; GoldenGrant, Katie; Danielsen, Katrin Eivindardottir; Paleologos, Katrina; Broomberg, Katya; Chan, Kee; Hagman, Kelly; Kalbfleisch, Kelsey; Irvine, Ken; Hall, Kevin; Van Den Bogaert, Kris; Sund, Kristen; Milko, Laura; Capacchione, Lauren; Scully, Lauren; Faivre, Laurence; Servais, Laurent; Horwitz, Layla; Rottensten, Lene; Kauko, Leni; Protopsaltis, Liana; Henneman, Lidewij; Downie, Lilian; Marcelis, Lionel; Diller, Lisa; King, Lisa Sniderman; Gardner, Liz; Metherell, Lou; St George, Lourdes; Kaplun, Lucy; Hegde, Madhuri; Siitonen, Maija; Bresnahan, Mairead; Ponikowska, Malgorzata; Iascone, Maria; Martinez-Fresno, Maria; Raia, Marianna; Dolle, Martijn; Vu, Martin; Aujla, Matthew; Ellinwood, Matthew; Pelo, Matthew; Longoni, Mauro; To, Meekai; Clarke, Megan; Baker, Mei; Berenger, Melissa; Wasserstein, Melissa; Wright, Meredith; Nyegaard, Mette; Gelb, Michael; Watson, Michael; Zuccolo, Michela; Pirreca, Michelle; Niemela, Minna; van der Burg, Mirjam; Ferrie, Monica; Alshehri, Munira; Sachedina, Nabihah; Yin-Hsiu Chien, Nancy; Mikkelsen, Nanna Balle; Bonhomme, Natasha; Sondheimer, Neal; Encina, Nicolas; Kelly, Nicole; Miller, Nicole; Shah, Nidhi; Armstrong, Niki; Gold, Nina; Ceballo, Onassis Castillo; Dixit, Pakhi; Lee, Pamela; Tafas, Paris; Kruszka, Paul; Rollier, Paul; Furu, Petra; Tsipouras, Petros; Twiss, Philip; Brooks, P.J.; Teekakirikul, Polakit; Klein, Rachel; Badji, Radja Messai; Heiner-Fokkema, Rebecca; Reimers, Rebecca; Zimmerman, Rebekah; Parad, Richard; Scott, Richard; Kaukonen, Riina; Green, Robert; Steiner, Robert; Melbardis, Roberts; Hayeems, Robin; Heald, Rose; Liu, Ruby; Hartmanis, Sally; Elsea, Sarah; Norris, Sarah; Grosse, Scott; Lunke, Sebastian; Yusuff, Shamila; Morgan, Sian; Singh, Sikha; Adelson, Sophia; Seeloff, Stacey; Koelker, Stefan; Coury, Stephanie; Kingsmore, Stephen; Brenner, Steven; Bhatt, Sucheta; Nicklen, Sukhvinder; Clasper, Susan; Drury, Suzanne; Dangouloff, Tamara; Finkel, Terri; Brewster, Thomas; Minten, Thomas; Westover, Thomas; Urv, Tiina; Defay, Tom; Zemojtel, Tomasz; Cox, Tony; Bishop, Tracey; Jensen, Ulrich Glumer; Stoltze, Ulrik; Mütze, Ulrike; Chung, Wendy; Chen, Winnie; Gao, Ya; Quevedo, Yeyson; Veloudi, Yiota; Kousa, Youssef; Chen, Yun-Ru; Hu, Zhanzhi; Stark, Zornitza; Bick, Sarah ; Gehlenborg, Nils ; Amendola, Laura M. ; Coffey, Alison J. ; Kirschner, Janbernd ; Russell, Bianca E. ; Sund, Kristen L. ; Taft, Ryan J. ; Zouk, Hana ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine July 2025 27(7)
Academic Journal
Erin Tutty; Alison D. Archibald; Lilian Downie; Clara Gaff; Sebastian Lunke; Danya F. Vears; Zornitza Stark; Stephanie Best
Eur J Hum Genet
Academic Journal
Martyn, Melissa ; Lee, Ling ; Jan, Alli ; Tytherleigh, Rigan ; Lynch, Fiona ; Mighton, Chloe ; Bouffler, Sophie E. ; Lynch, Elly ; Macciocca, Ivan ; Curnow, Lisette ; McCorkell, Giulia ; Lunke, Sebastian ; Chong, Belinda ; Delatycki, Martin B. ; Downie, Lilian ; Vears, Danya ; Best, Stephanie ; Clausen, Marc ; Bombard, Yvonne ; Stark, Zornitza ; Gaff, Clara
In Genetics in Medicine February 2025 27(2)
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Academic Journal
Lee, Eunhye; Sim, Seungmin; Choi, Hee-Jung; Liang, Eugene Y.; Le, Carolyn; Bina, Roya; Cohen, Ryan; George, Elizabeth; Kim, Soo Yeon; Bhat, Gifty; Falsey, Erin; Sidlow, Richard; Clinard, Kristin; Ben-Shachar, Shay; England, Eleina; Menendez, Beatriz; Herman, Isabella; Nielsen, Shelly; Punetha, Jaya; Bhola, Priya; Hamm, J. Austin; Keeney, Megan A.; Sitzman, Nike; Berger, Sara; Mehta, Lakshmi; Conn, Alison J.; Downie, Lilian; Ashfaq, Myla; Northrup, Hope; Bruel, Ange-Line; Odent, Sylvie; Szot, Justin O.; Martinez, Noelia Nunez; Park, Sunju; Refkin, Julie; Good, Jean-Marc; Maurer, Fabienne; Le Caignec, Cedric; Coman, David J.; Anderson, Erin; Richards, Linda J.; Dean, Ryan J.; Yang, Caleb; Choi, Chulwon; Hwang, Byung Joon; Lee, Jin Sook; Dobyns, William B.; Choi, Murim; Sherr, Elliott H.; Chae, Jong-Hee; Kee, Yun; Argilli, Emanuela
Academic Journal
Australian and New Zealand Journal of Obstetrics and Gynaecology.
Academic Journal
Journal of Inherited Metabolic Disease. 48
Academic Journal
Gold, Nina; Yeo, Julie; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan; Boemer, François; Chung, Wendy; Cope, Heidi; Eckstein, David; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; Garcia-Villoria, Judit; Gelb, Michael; Gonzalez De Aledo Castillo, Jose Manuel; Golden-Grant, Katie; Minten, Thomas; Parad, Richard; Shah, Nidhi; Stark, Zornitza; Sund, Kristen; Tsipouras, Petros; To, Meekai; Downie, Lilian
Genetics in Medicine Open. 3
Academic Journal
American Journal of Medical Genetics Part A. 191:2856-2859
Academic Journal
Prenatal Diagnosis. 43:1310-1319
Academic Journal
Bennett Oh Vic Shum; Carel Jacobus Pretorius; Letitia Min Fen Sng; Ilya Henner; Paulette Barahona; Emre Basar; Jim McGill; Urs Wilgen; Anna Zournazi; Lilian Downie; Natalie Taylor; Liam Cheney; Sylvania Wu; Natalie Angela Twine; Denis Carolin Bauer; Gerald Francis Watts; Akash Navilebasappa; Kishore Rajagopal Kumar; Jacobus Petrus Johannes Ungerer; Glenn Bennett
Clinical Chemistry. 69:890-900
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