학술논문
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'학술논문'
에서 검색결과 63건 | 목록
1~20
Academic Journal
Annelotte J. Duintjer; Robbert G.M. Bredius; J. Merlijn van den Berg; Lisette van de Corput; Willem A. Dik; Mariëlle E. van Gijn; Stefanie S. Henriet; Evelien A. Kemper; Taco W. Kuijpers; G. Elizabeth Legger; Joris M. van Montfrans; Liesbeth H. Schölvinck; Clementien L. Vermont; Els Voorhoeve; Gert Weijman; Gijs T.J. van Well; Evelien Zonneveld-Huijssoon; Mirjam van der Burg; Maartje Blom
Journal of Human Immunity, Vol 2, Iss 2, Pp - (2026)
Academic Journal
Duintjer, Annelotte J.; Imholz, Sandra; Pico-Knijnenburg, Ingrid; Heuperman, Adinda; Hodemaekers, Hennie; Deutekom, Eva S.; Voorhoeve, Els; Dollé, Martijn E. T.; van der Burg, Mirjam
International Journal of Neonatal Screening. September, 2025, Vol. 11 Issue 3
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
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
Jensen, Matthew ; Smolen, Corrine ; Tyryshkina, Anastasia ; Pizzo, Lucilla ; Sun, Jiawan ; Noss, Serena ; Banerjee, Deepro ; Oetjens, Matthew ; Shimelis, Hermela ; Taylor, Cora M. ; Pounraja, Vijay Kumar ; Song, Hyebin ; Rohan, Laura ; Huber, Emily ; El Khattabi, Laila ; van de Laar, Ingrid ; Tadros, Rafik ; Bezzina, Connie R. ; van Slegtenhorst, Marjon ; Kammeraad, Janneke ; Prontera, Paolo ; Caberg, Jean-Hubert ; Fraser, Harry ; Banka, Siddharth ; Van Dijck, Anke ; Schwartz, Charles ; Voorhoeve, Els ; Callier, Patrick ; Mosca-Boidron, Anne-Laure ; Marle, Nathalie ; Lefebvre, Mathilde ; Pope, Kate ; Snell, Penny ; Boys, Amber ; Lockhart, Paul J. ; Ashfaq, Myla ; McCready, Elizabeth ; Nowacyzk, Margaret ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Bruccheri, Maria Grazia ; Mandarà, Giuseppa Maria Luana ; Mari, Francesca ; Privitera, Flavia ; Longo, Ilaria ; Curró, Aurora ; Renieri, Alessandra ; Keren, Boris ; Charles, Perrine ; Cuinat, Silvestre ; Nizon, Mathilde ; Pichon, Olivier ; Bénéteau, Claire ; Stoeva, Radka ; Martin-Coignard, Dominique ; Blesson, Sophia ; Le Caignec, Cedric ; Mercier, Sandra ; Vincent, Marie ; Martin, Christa L. ; Mannik, Katrin ; Reymond, Alexandre ; Faivre, Laurence ; Sistermans, Erik ; Kooy, R. Frank ; Amor, David J. ; Romano, Corrado ; Andrieux, Joris ; Girirajan, Santhosh
In Cell September 2025
Academic Journal
Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddhartha Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
medRxiv
Academic Journal
Malgorzata I. Srebniak; Fernanda S. Jehee; Marieke Joosten; Marjan Boter; Walter G. de Valk; Robert van der Helm; Erik A. Sistermans; Els Voorhoeve; Shama Bhola; Mariette J. V. Hoffer; Nicolette den Hollander; Merryn V. E. Macville; Diane Van Opstal
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W G, van der Helm, R, Sistermans, E A, Voorhoeve , E, Bhola, S, Hoffer, M J V, den Hollander, N, Macville, M V E & van Opstal, D 2021, 'Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go?', Acta Obstetricia et Gynecologica Scandinavica, vol. 100, no. 11, pp. 2036-2043. https://doi.org/10.1111/aogs.14256, https://doi.org/10.1111/aogs.14256
Academic Journal
Maurike de Groot‐van der Mooren; Gert de Graaf; Michel E Weijerman; Mariette J. V Hoffer; Jeroen Knijnenburg; Anne‐Marie M. F van der Kevie‐Kersemaekers; Angelique J. A Kooper; Els Voorhoeve; Birgit Sikkema‐Raddatz; Laura J. C. M van Zutven; Malgorzata Ilona Srebniak; Karin Huijsdens‐van Amsterdam; John J. M Engelen; Dominique Smeets; Anton H van Kaam; Martina C Cornel
Prenat Diagn
de Groot-van der Mooren, M, de Graaf, G, Weijerman, M E, Hoffer, M J V, Knijnenburg, J, van der Kevie-Kersemaekers, A-M M F, Kooper, A J A,Voorhoeve , E, Sikkema-Raddatz, B, van Zutven, L J C M, Srebniak, M I, Huijsdens-van Amsterdam, K, Engelen, J J M, Smeets, D, van Kaam, A H & Cornel, M C 2021, 'Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study', Prenatal Diagnosis, vol. 41, no. 10, pp. 1351-1359. https://doi.org/10.1002/pd.6003, https://doi.org/10.1002/pd.6003
de Groot-van der Mooren, M, de Graaf, G, Weijerman, M E, Hoffer, M J V, Knijnenburg, J, van der Kevie-Kersemaekers, A-M M F, Kooper, A J A,
Academic Journal
Kiewiet, Gea; Westra, Dineke; de Boer, Eddy N.; van Berkel, Emma; Hofste, Tom G. J.; van Zweeden, Martine; Derks, Ronny C.; Leijsten, Nico F. A.; Ruiterkamp-Versteeg, Martina H. A.; Charbon, Bart; Johansson, Lennart; Bos-Kruizinga, Janneke; Veenstra, Inge J.; de Sain-van der Velden, Monique G. M.; Voorhoeve, Els; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan; Sikkema-Raddatz, Birgit; Nelen, Marcel
International Journal of Neonatal Screening. March, 2024, Vol. 10 Issue 1
Academic Journal
Luisa Marsili; Eline Overwater; Nadine Hanna; Geneviève Baujat; Marieke J.H. Baars; Catherine Boileau; Dominique Bonneau; Anne Claire Brehin; Yline Capri; Ho Y. Cheung; Eelco Dulfer; Marion Gerard; Laurent Gouya; Yvonne Hilhorst‐Hofstee; Arjan C. Houweling; Bertrand Isidor; Lauriane Le Gloan; Leonie A. Menke; Sylvie Odent; Fanny Morice‐Picard; Clemence Vanlerberghe; Els Voorhoeve; J. Peter van Tintelen; Alessandra Maugeri; Pauline Arnaud
Marsili, L, Overwater, E, Hanna, N, Baujat, G, Baars, M J H, Boileau, C, Bonneau, D, Brehin, A C, Capri, Y, Cheung, H Y, Dulfer, E, Gerard, M, Gouya, L, Hilhorst-Hofstee, Y, Houweling, A C, Isidor, B, Le Gloan, L, Menke, L A, Odent, S, Morice-Picard, F, Vanlerberghe, C, Voorhoeve , E, van Tintelen, J P, Maugeri, A & Arnaud, P 2020, 'Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient', Clinical Genetics, vol. 97, no. 5, pp. 723-730. https://doi.org/10.1111/cge.13700
Academic Journal
Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A. ; Mannik, Katrin ; Krishnan, Arjun ; McCready, Elizabeth ; Pichon, Olivier ; Le Caignec, Cedric ; Van Dijck, Anke ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Stankiewicz, Paweł ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel L. ; Mari, Francesca ; Curró, Aurora ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Mandarà, Luana ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Bénéteau, Claire ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Caberg, Jean-Hubert ; Bucan, Maja ; Zeesman, Susan ; Nowaczyk, Małgorzata J.M. ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R. Frank ; Isidor, Bertrand ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J. ; Andrieux, Joris ; Girirajan, Santhosh
In Genetics in Medicine April 2019 21(4):816-825
Academic Journal
Eline Overwater; Luisa Marsili; Marieke J.H. Baars; Annette F. Baas; Irma van de Beek; Eelco Dulfer; Johanna M. van Hagen; Yvonne Hilhorst-Hofstee; Marlies Kempers; Ingrid P. Krapels; Leonie A. Menke; Judith M.A. Verhagen; Kak K. Yeung; Petra J.G. Zwijnenburg; Maarten Groenink; Peter van Rijn; Marjan M. Weiss; Els Voorhoeve; J. Peter van Tintelen; Arjan C. Houweling; Alessandra Maugeri
Hum Mutat
Overwater, E, Marsili, L, Baars, M J H, Baas, A F, van de Beek, I, Dulfer, E, van Hagen, J M, Hilhorst-Hofstee, Y, Kempers, M, Krapels, I P, Menke, L A, Verhagen, J M A, Yeung, K K, Zwijnenburg, P J G, Groenink, M, van Rijn, P, Weiss, M M,Voorhoeve , E, van Tintelen, J P, Houweling, A C & Maugeri, A 2018, 'Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders', Human Mutation, vol. 39, no. 9, pp. 1173-1192. https://doi.org/10.1002/humu.23565
Human Mutation, 39, 9, pp. 1173-1192
Overwater, E, Marsili, L, Baars, M J H, Baas, A F, van de Beek, I, Dulfer, E, van Hagen, J M, Hilhorst-Hofstee, Y, Kempers, M, Krapels, I P, Menke, L A, Verhagen, J M A, Yeung, K K, Zwijnenburg, P J G, Groenink, M, van Rijn, P, Weiss, M M,
Human Mutation, 39, 9, pp. 1173-1192
Academic Journal
Abigail Veldman; Mensiena B. G. Kiewiet; Margaretha Rebecca Heiner-Fokkema; Marcel R. Nelen; Richard J. Sinke; Birgit Sikkema-Raddatz; Els Voorhoeve; Dineke Westra; Martijn E. T. Dollé; Peter C. J. I. Schielen; Francjan J. van Spronsen
International Journal of Neonatal Screening, Vol 8, Iss 1, p 17 (2022)
Academic Journal
Beunders, Gea ; Voorhoeve, Els ; Golzio, Christelle ; Pardo, Luba M. ; Rosenfeld, Jill A. ; Talkowski, Michael E. ; Simonic, Ingrid ; Lionel, Anath C. ; Vergult, Sarah ; Pyatt, Robert E. ; van de Kamp, Jiddeke ; Nieuwint, Aggie ; Weiss, Marjan M. ; Rizzu, Patrizia ; Verwer, Lucilla E.N.I. ; van Spaendonk, Rosalina M.L. ; Shen, Yiping ; Wu, Bai-lin ; Yu, Tingting ; Yu, Yongguo ; Chiang, Colby ; Gusella, James F. ; Lindgren, Amelia M. ; Morton, Cynthia C. ; van Binsbergen, Ellen ; Bulk, Saskia ; van Rossem, Els ; Vanakker, Olivier ; Armstrong, Ruth ; Park, Soo-Mi ; Greenhalgh, Lynn ; Maye, Una ; Neill, Nicholas J. ; Abbott, Kristin M. ; Sell, Susan ; Ladda, Roger ; Farber, Darren M. ; Bader, Patricia I. ; Cushing, Tom ; Drautz, Joanne M. ; Konczal, Laura ; Nash, Patricia ; de Los Reyes, Emily ; Carter, Melissa T. ; Hopkins, Elizabeth ; Marshall, Christian R. ; Osborne, Lucy R. ; Gripp, Karen W. ; Thrush, Devon Lamb ; Hashimoto, Sayaka ; Gastier-Foster, Julie M. ; Astbury, Caroline ; Ylstra, Bauke ; Meijers-Heijboer, Hanne ; Posthuma, Danielle ; Menten, Björn ; Mortier, Geert ; Scherer, Stephen W. ; Eichler, Evan E. ; Girirajan, Santhosh ; Katsanis, Nicholas ; Groffen, Alexander J. ; Sistermans, Erik A.
In The American Journal of Human Genetics 7 February 2013 92(2):210-220
Book
Molecular Diagnosis of Genetic Diseases ISBN: 1592594328
Academic Journal
Veldman, Abigail; Kiewiet, Mensiena B. G.; Heiner-Fokkema, Margaretha Rebecca; Nelen, Marcel R.; Sinke, Richard J.; Sikkema-Raddatz, Birgit; Voorhoeve, Els; Westra, Dineke; Dollé, Martijn E. T.; Schielen, Peter C. J. I.; van Spronsen, Francjan J.
Academic Journal
Oosterwijk, Jan C.; van der Wielen, Michiel J. R.; van de Vosse, Esther; Voorhoeve, Els; Bakker, Egbert
Journal of Medical Genetics. Sep 01, 1995 32(9):736-739
Academic Journal
Srebniak, Malgorzata I.; Jehee, Fernanda S.; Joosten, Marieke; Boter, Marjan; de Valk, Walter G.; van der Helm, Robert; Sistermans, Erik A.; Voorhoeve, Els; Bhola, Shama; Hoffer, Mariette J. V.; den Hollander, Nicolette; Macville, Merryn V. E.; Van Opstal, Diane
Academic Journal
de Groot‐van der Mooren, Maurike; de Graaf, Gert; Weijerman, Michel E; Hoffer, Mariette J. V; Knijnenburg, Jeroen; van der Kevie‐Kersemaekers, Anne‐Marie M. F; Kooper, Angelique J. A; Voorhoeve, Els; Sikkema‐Raddatz, Birgit; van Zutven, Laura J. C. M; Srebniak, Malgorzata Ilona; Huijsdens‐van Amsterdam, Karin; Engelen, John J. M; Smeets, Dominique; van Kaam, Anton H; Cornel, Martina C
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