학술논문
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Academic Journal
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep
Nature Communications; 7/11/2023, Vol. 14 Issue 1, p1-18, 18p
Periodical
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K.-G.; Lorenzo, Damaris N.
Nature Genetics; July 2021, Vol. 53 Issue: 7 p1006-1021, 16p
Academic Journal
Shaheen, Ranad; Mark, Paul; Prevost, Christopher T.; AlKindi, Adila; Alhag, Ahmad; Estwani, Fatima; Al‐Sheddi, Tarfa; Alobeid, Eman; Alenazi, Mona M.; Ewida, Nour; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Bryant, Emily M.; Spinelli, Egidio; Millichap, John; Barnett, Sarah S.; Kearney, Hutton M.; Accogli, Andrea; Scala, Marcello
Human Mutation; Nov2019, Vol. 40 Issue 11, p2108-2120, 13p
Electronic Resource
National Institutes of Health (US); Ministerio de Economía y Competitividad (España); Ministerio de Ciencia, Innovación y Universidades (España); Agencia Estatal de Investigación (España); University of Alabama at Birmingham; Ministerio de Ciencia e Innovación (España); Ministerio de Educación y Ciencia (España); Manchester Biomedical Research Centre; European Commission; National Institute for Health Research (UK); Wellcome Trust; Cancer Research UK; Medical Research Council (UK); Wellcome Sanger Institute; Gracia-Díaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; España-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fátima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle L.; Chassevent, Anna; Smith-Hicks, Constance L.; Cruz, Xavier de la; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M. J.; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle; Song, Hongjun; Ming, Guo-Li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez-Balbás, Marian; Akizu, Naiara
Academic Journal
Academic Journal
Burkardt, Deepika D'Cunha; Zachariou, Anna; Loveday, Chey; Allen, Clare L.; Amor, David J.; Ardissone, Anna; Banka, Siddharth; Bourgois, Alexia; Coubes, Christine; Cytrynbaum, Cheryl; Faivre, Laurence; Marion, Gerard; Horton, Rachel; Kotzot, Dieter; Lay‐Son, Guillermo; Lees, Melissa; Low, Karen; Luk, Ho‐Ming; Mark, Paul; McConkie‐Rosell, Allyn
American Journal of Medical Genetics. Part A; Oct2019, Vol. 179 Issue 10, p2049-2055, 7p
Academic Journal
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K.-G.; Lorenzo, Damaris N.
Nature Genetics. 53(7):1006-1021
Academic Journal
Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann‐Josef; Stark, Zornitza; Sadedin, Simon; The Broad CMG; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark
Human Mutation; Aug2018, Vol. 39 Issue 8, p1126-1138, 13p
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