학술논문
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위반 시 제재
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'학술논문'
에서 검색결과 77건 | 목록
1~20
Academic Journal
In Human Genetics and Genomics Advances 10 July 2025 6(3)
Academic Journal
Hiatt, Susan M. ; Trajkova, Slavica ; Sebastiano, Matteo Rossi ; Partridge, E. Christopher ; Abidi, Fatima E. ; Anderson, Ashlyn ; Ansar, Muhammad ; Antonarakis, Stylianos E. ; Azadi, Azadeh ; Bachmann-Gagescu, Ruxandra ; Bartuli, Andrea ; Benech, Caroline ; Berkowitz, Jennifer L. ; Betti, Michael J. ; Brusco, Alfredo ; Cannon, Ashley ; Caron, Giulia ; Chen, Yanmin ; Cochran, Meagan E. ; Coleman, Tanner F. ; Crenshaw, Molly M. ; Cuisset, Laurence ; Curry, Cynthia J. ; Darvish, Hossein ; Demirdas, Serwet ; Descartes, Maria ; Douglas, Jessica ; Dyment, David A. ; Elloumi, Houda Zghal ; Ermondi, Giuseppe ; Faoucher, Marie ; Farrow, Emily G. ; Felker, Stephanie A. ; Fisher, Heather ; Hurst, Anna C.E. ; Joset, Pascal ; Kelly, Melissa A. ; Kmoch, Stanislav ; Leadem, Benjamin R. ; Lyons, Michael J. ; Macchiaiolo, Marina ; Magner, Martin ; Mandrile, Giorgia ; Mattioli, Francesca ; McEown, Megan ; Meadows, Sarah K. ; Medne, Livija ; Meeks, Naomi J.L. ; Montgomery, Sarah ; Napier, Melanie P. ; Natowicz, Marvin ; Newberry, Kimberly M. ; Niceta, Marcello ; Noskova, Lenka ; Nowak, Catherine B. ; Noyes, Amanda G. ; Osmond, Matthew ; Prijoles, Eloise J. ; Pugh, Jada ; Pullano, Verdiana ; Quélin, Chloé ; Rahimi-Aliabadi, Simin ; Rauch, Anita ; Redon, Sylvia ; Reymond, Alexandre ; Schwager, Caitlin R. ; Sellars, Elizabeth A. ; Scheuerle, Angela E. ; Shukarova-Angelovska, Elena ; Skraban, Cara ; Stolerman, Elliot ; Sullivan, Bonnie R. ; Tartaglia, Marco ; Thiffault, Isabelle ; Uguen, Kevin ; Umaña, Luis A. ; van Bever, Yolande ; van der Crabben, Saskia N. ; van Slegtenhorst, Marjon A. ; Waisfisz, Quinten ; Washington, Camerun ; Rodan, Lance H. ; Myers, Richard M. ; Cooper, Gregory M.
In The American Journal of Human Genetics 2 February 2023 110(2):215-227
Academic Journal
Whittle, Ella F. ; Chilian, Madison ; Karimiani, Ehsan Ghayoor ; Progri, Helga ; Buhas, Daniela ; Kose, Melis ; Ganetzky, Rebecca D. ; Toosi, Mehran Beiraghi ; Torbati, Paria Najarzadeh ; Badv, Reza Shervin ; Shelihan, Ivan ; Yang, Hui ; Elloumi, Houda Zghal ; Lee, Sukyeong ; Jamshidi, Yalda ; Pittman, Alan M. ; Houlden, Henry ; Ignatius, Erika ; Rahman, Shamima ; Maroofian, Reza ; Yoon, Wan Hee ; Carroll, Christopher J.
In Genetics in Medicine February 2023 25(2)
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Academic Journal
Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B. ; Alkhunaizi, Ebba ; Brandt, Tracy ; Chitayat, David A. ; DeFilippo, Colette P. ; Douglas, Ganka V. ; Dubbs, Holly A. ; Elloumi, Houda Zghal ; Glassford, Megan R. ; Hannibal, Mark C. ; Héron, Bénédicte ; Kim, Linda E. ; Marco, Elysa J. ; Mignot, Cyril ; Monaghan, Kristin G. ; Myers, Kenneth A. ; Parikh, Sumit ; Quinonez, Shane C. ; Rajabi, Farrah ; Shankar, Suma P. ; Shinawi, Marwan S. ; van de Kamp, Jiddeke J.P. ; Veerapandiyan, Aravindhan ; Waldman, Amy T. ; Graf, William D.
In Pediatric Neurology January 2022 126:65-73
Academic Journal
Weerts, Marjolein J.A. ; Lanko, Kristina ; Guzmán-Vega, Francisco J. ; Jackson, Adam ; Ramakrishnan, Reshmi ; Cardona-Londoño, Kelly J. ; Peña-Guerra, Karla A. ; van Bever, Yolande ; van Paassen, Barbara W. ; Kievit, Anneke ; van Slegtenhorst, Marjon ; Allen, Nicholas M. ; Kehoe, Caroline M. ; Robinson, Hannah K. ; Pang, Lewis ; Banu, Selina H. ; Zaman, Mashaya ; Efthymiou, Stephanie ; Houlden, Henry ; Järvelä, Irma ; Lauronen, Leena ; Määttä, Tuomo ; Schrauwen, Isabelle ; Leal, Suzanne M. ; Ruivenkamp, Claudia A.L. ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Galehdari, Hamid ; Mazaheri, Neda ; Sisodiya, Sanjay M. ; Harrison, Victoria ; Sun, Angela ; Thies, Jenny ; Pedroza, Luis Alberto ; Lara-Taranchenko, Yana ; Chinn, Ivan K. ; Lupski, James R. ; Garza-Flores, Alexandra ; McGlothlin, Jeffery ; Yang, Lin ; Huang, Shaoping ; Wang, Xiaodong ; Jewett, Tamison ; Rosso, Gretchen ; Lin, Xi ; Mohammed, Shehla ; Merritt, J. Lawrence, II ; Mirzaa, Ghayda M. ; Timms, Andrew E. ; Scheck, Joshua ; Elting, Mariet W. ; Polstra, Abeltje M. ; Schenck, Lauren ; Ruzhnikov, Maura R.Z. ; Vetro, Annalisa ; Montomoli, Martino ; Guerrini, Renzo ; Koboldt, Daniel C. ; Mosher, Theresa Mihalic ; Pastore, Matthew T. ; McBride, Kim L. ; Peng, Jing ; Pan, Zou ; Willemsen, Marjolein ; Koning, Susanne ; Turnpenny, Peter D. ; de Vries, Bert B.A. ; Gilissen, Christian ; Pfundt, Rolph ; Lees, Melissa ; Braddock, Stephen R. ; Klemp, Kara C. ; Vansenne, Fleur ; van Gijn, Marielle E. ; Quindipan, Catherine ; Deardorff, Matthew A. ; Hamm, J. Austin ; Putnam, Abbey M. ; Baud, Rebecca ; Walsh, Laurence ; Lynch, Sally A. ; Baptista, Julia ; Person, Richard E. ; Monaghan, Kristin G. ; Crunk, Amy ; Keller-Ramey, Jennifer ; Reich, Adi ; Elloumi, Houda Zghal ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Haghshenas, Sadegheh ; Maroofian, Reza ; Sadikovic, Bekim ; Banka, Siddharth ; Arold, Stefan T. ; Barakat, Tahsin Stefan
In Genetics in Medicine November 2021 23(11):2122-2137
Academic Journal
de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A. ; Hampstead, Juliet E. ; Dingemans, Alexander J.M. ; Rots, Dmitrijs ; Lütje, Lukas ; Ashraf, Tazeen ; Baker, Rachel ; Barat-Houari, Mouna ; Angle, Brad ; Chatron, Nicolas ; Denommé-Pichon, Anne-Sophie ; Devinsky, Orrin ; Dubourg, Christèle ; Elmslie, Frances ; Elloumi, Houda Zghal ; Faivre, Laurence ; Fitzgerald-Butt, Sarah ; Geneviève, David ; Goos, Jacqueline A.C. ; Helm, Benjamin M. ; Kini, Usha ; Lasa-Aranzasti, Amaia ; Lesca, Gaetan ; Lynch, Sally A. ; Mathijssen, Irene M.J. ; McGowan, Ruth ; Monaghan, Kristin G. ; Odent, Sylvie ; Pfundt, Rolph ; Putoux, Audrey ; van Reeuwijk, Jeroen ; Santen, Gijs W.E. ; Sasaki, Erina ; Sorlin, Arthur ; van der Spek, Peter J. ; Stegmann, Alexander P.A. ; Swagemakers, Sigrid M.A. ; Valenzuela, Irene ; Viora-Dupont, Eléonore ; Vitobello, Antonio ; Ware, Stephanie M. ; Wéber, Mathys ; Gilissen, Christian ; Low, Karen J. ; Fisher, Simon E. ; Vissers, Lisenka E.L.M. ; Wong, Maggie M.K. ; Kleefstra, Tjitske
In Genetics in Medicine November 2023 25(11)
Academic Journal
Brice, Alexis ; Kumeh, Amasi ; West, Andrew B. ; Singleton, Andrew ; Naito, Anna ; Schüle, Birgitt ; Fiske, Brian ; Gabbert, Carolin ; Klein, Christine ; Marras, Connie ; Blauwendraat, Cornelis ; Thaxton, Courtney ; Alessi, Dario ; Craig, David ; Fon, Edward A. ; Forbes, Emily ; Valente, Enza Maria ; Sammler, Esther ; Chao, Gill ; Riboldi, Giulietta ; Elloumi, Houda Zghal ; Mata, Ignacio ; Beck, James C. ; Fong, Jamie C. ; Corvol, Jean-Christophe ; Schulze, Jeanine ; Verbrugge, Jennifer ; Shulman, Joshua ; Peterschmitt, Judith ; Marder, Karen ; Lohmann, Katja ; Nudelman, Kelly ; Lange, Lara ; Cook, Lola ; Cookson, Mark R. ; Nance, Martha ; Farrer, Matthew ; Grigorian, Melina ; Schwarzschild, Michael A. ; Mencacci, Niccolo ; Ross, Owen ; Mistry, Pramod ; Hodges, Priscila ; Blake, Rachel ; Saunders-Pullman, Rachel ; Alcalay, Roy N. ; Sardi, S. Pablo ; Farhan, Sali ; Strom, Samuel ; Padmanabhan, Shalini ; Mohan, Shruthi ; Longerich, Simonne ; Schneider, Susanne ; Lesage, Suzanne ; Bardakjian, Tanya ; Foroud, Tatiana ; Courtin, Thomas ; Tropea, Thomas ; Liu, Yunlong ; Gan-Or, Ziv ; Shalash, Ali S. ; Hall, Anne ; Thaler, Avner ; Sue, Carolyn M. ; Mascalzoni, Deborah ; Raymond, Deborah ; Gatto, Emilia Mabel ; Pal, Gian D. ; König, Inke ; Novakovic, Ivana ; Merello, Marcelo ; Salari, Mehri ; Mencacci, Niccolo Emanuele ; Hattori, Nobutaka ; Suchowersky, Oksana ; Bardien, Soraya ; Chung, Sun Ju ; Simuni, Tatyana ; Lynch, Timothy ; Bonifati, Vincenzo ; Marder, Karen S.
In Parkinsonism and Related Disorders November 2021 92:107-111
Academic Journal
In Molecular Immunology January 2008 45(1):204-217
Academic Journal
Garber, Alison; Weingarten, Lisa S.; Abreu, Nicolas J.; Elloumi, Houda Zghal; Haack, Tobias; Hildebrant, Clara; Martínez‐Gil, Núria; Mathews, Jennifer; Müller, Amelie Johanna; Valenzuela Palafoll, Irene; Steigerwald, Connolly; Chung, Wendy K.
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-10, 10p
Academic Journal
Pingault, Véronique; Neiva-Vaz, Cécilia; de Oliveira, Judite; Martínez-Gil, Núria; Lasa-Aranzasti, Amaia; Campos, Berta; Lakeman, Inge M. M.; Nibbeling, Esther A. R.; Stoeva, Radka; Jayakar, Parul; Dabir, Tabib; Elloumi, Houda Zghal; Strong, Alanna; Hanein, Sylvain; Picard, Arnaud; Ochsenbein, Francoise; Blanc, Pierre; Amiel, Jeanne
European Journal of Human Genetics. 33(1):131-136
Academic Journal
Sewani, Soha; Azamian, Mahshid S.; Mendelsohn, Bryce A.; Mau‐Them, Frederic Tran; Réda, Manon; Nambot, Sophie; Isidor, Bertrand; van der Smagt, Jasper J.; Shen, Joseph J.; Shillington, Amelle; White, Lori; Elloumi, Houda Zghal; Baker, Peter R.; Svihovec, Shayna; Brown, Kathleen; Koopman‐Keemink, Yvonne; Hoffer, Mariette J. V.; Lakeman, Inge M. M.; Brischoux‐Boucher, Elise; Kinali, Maria
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-12, 12p
Academic Journal
Schincariol-Manhe, Beatriz; Campagnolo, Érica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldão; Pessoa, André; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C.; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andréa Trevas; Gil-da-Silva-Lopes, Vera Lúcia; dos Santos, Ana Mondadori; Vieira, Társis Paiva
European Journal of Human Genetics. 32(12):1640-1646
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Ãsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, AleÅ¡; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Genome Medicine. May 30, 2024, Vol. 16 Issue 1
Academic Journal
de Boer, Elke; Ockeloen, Charlotte; Kampen, Rosalie; Hampstead, Juliet; Dingemans, Alexander; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denommé‐pichon, Anne‐sophie; Devinsky, Orrin; Dubourg, Christèle; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Geneviève, David; Goos, Jacqueline A.C.; Helm, Benjamin; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaëtan; Lynch, Sally-Ann; Mathijssen, Irene M.J.; Mcgowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W.E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter; Stegmann, Alexander; Swagemakers, Sigrid M.A.; Valenzuela, Irene; Viora-Dupont, Eléonore; Vitobello, Antonio; Ware, Stephanie; Wéber, Mathys; Gilissen, Christian; Low, Karen; Fisher, Simon; Vissers, Lisenka E.L.M.; Wong, Maggie M.K.; Kleefstra, Tjitske
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, 'Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064. https://doi.org/10.1016/j.gim.2022.06.007
Genet Med.
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, 'Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064. https://doi.org/10.1016/j.gim.2022.06.007
Genet Med.
Academic Journal
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natalia; Fueyo, Raquel; Waxman, Elisa; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah; Mark, Paul; Harr, Margaret; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle; Chassevent, Anna; Smith-Hicks, Constance; de la Cruz, Xavier; Holtz, Alexander; Elloumi, Houda Zghal; Hajianpour, M. J. L.; Rieubland, Claudine A.; Braun, Dominique; Banka, Siddharth; Genomic England Res Consortium, M. J.; French, Deborah L. S.; Heller, Elizabeth B.; Saade, Murielle; Song, Hongjun J.; Ming, Guo-li A.; Alkuraya, Fowzan; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martinez-Balbas, Marian; Akizu, Naiara
Academic Journal
Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt; J. Lawrence; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan
Genet Med
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Academic Journal
Kaiyrzhanov, Rauan; Zaki, Maha S.; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gozde Yesil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gulacar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Genevieve; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M.; Abdel-Hamid, Mohamed S.; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M.; Brown, Garry; Taylor, Robert W.; Galehdari, Hamid; Gleeson, Joseph J.; Carroll, Christopher J.; Cowan, James A.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza
Academic Journal
In Gastroenterology 2010 138(5) Supplement 1:S
Book
Neutrophil Methods & Protocols (9781627038447); 2014, p517-535, 19p
Book
Walker, John M.; Quinn, Mark T.; DeLeo, Frank R.; Bokoch, Gary M.; Elloumi, Houda Zghal; Holland, Steven M.
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