학술논문
'학술논문'
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1~10
Academic Journal
Schmid, Cosima M.; Gregor, Anne; Costain, Gregory; Morel, Chantal F.; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J.; Cohen, Ana S.A.; Lemire, Gabrielle; Sacharow, Stephanie; O’Donnell-Luria, Anne; Segal, Ranit Jaron; Kianmahd Shamshoni, Jessica; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie P.; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, André; Sticht, Heinrich; Chung, Wendy K.; Zweier, Christiane
In Genetics in Medicine July 2023 25(7)
Academic Journal
Karayol, Remzi; Borroto, Maria; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann; Mulligan, Meghan; Bicknell, Louise; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin; Shashi, Vandana; Sullivan, Jennifer; Peron, Angela; Iascone, Maria; Canevini, Maria; Friedman, Jennifer; Reyes, Iris; Kierstein, Janell; Shen, Joseph; Ahmed, Faria; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna; Monaghan, Kristin; Rousseau, Justine; Myers, Kenneth; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe
American Journal of Human Genetics. 111(7)
Academic Journal
Tidwell, Timothy; Gregg, Anthony; Grody, Wayne; Guo, Michael; Kearney, Hutton; Monaghan, Kristin; Taylor, Jennifer; Mendoza, Cinthya Zepeda; Ziats, Catherine; Deignan, Joshua; Raraigh, Karen
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Chung, Wendy; Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise; Suchy, Sharon; Bergtrup, Amber; Langley, Katherine; Amendola, Laura; Boyd, Brenna; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian; Coffey, Alison; Devaney, Joseph; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsey; Gyimah, Awura; Hernan, Rebecca; Hofherr, Sean; Hruska, Kathleen; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, Aaron; Kavus, Haluk; Leibel, Rudolph; McWalter, Kirsty; Monaghan, Kristin; Soler, Nicole Pimentel; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shapiro, Natasha; Sicko, Robert; Storm, Samuel; Torene, Rebecca; Williams, Olatundun; Wynn, Julia; Taft, Ryan; Kruszka, Paul; Caggana, Michele
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Wang, Wei; Henderson, Lindsay; Scuffins, Julie; Dyer, Lisa; Dyer, Lindsay Havens; Douglas, Ganka; Monaghan, Kristin; Morrow, Michelle; Matyakhina, Ludmila
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Sukov, William R.; Ketterling, Rhett P.; Wei, Sainan; Monaghan, Kristin; Blunden, Paul; Mazzara, Paul; Raghavan, Ravi; Oliviera, Andre M.; Wiktor, Anne E.; Keeney, Gary L.; Van Dyke, Daniel L.
In Cancer Genetics and Cytogenetics 2010 202(2):123-128
Academic Journal
Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Bjorn; Monaghan, Kristin; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denomme-Pichon, Anne-Sophie; Vitobllo, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Vila, Elisabeth Gabau; Mak, Bryan C.; Martinez-Agosto, Julian A.; Gorin, Michael B.; Duz, Bugrahan; Bayram, Yavuz; Fonseca, Claudia M. B. Carvalho; Vengoechea, Jaime; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M.; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale; Nigro, Vincenzo; Severino, MariaSavina; Capra, Valeria; Costain, Gregory; Nagata, Koh-ichi; Undiagnosed Disease Network; Telethon Undiagnosed Dis Program
Academic Journal
Schmid, Cosima; Gregor, Anne; Costain, Gregory; Morel, Chantal; Massingham, Lauren; Schwab, Jennifer; Quelin, Chloe; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Sauders, Carol J.; Cohen, Ana S. A.; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Jaron, Ranit; Shamshoni, Jessica; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy; Napier, Melanie; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, Andre; Sticht, Heinrich; Chung, Wendy; Zweier, Christiane
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Academic Journal
Karakaya, Mert; Mazaheri, Neda; Polat, Ipek; Bharucha-Goebel, Diana; Donkervoort, Sandra; Maroofian, Reza; Shariati, Gholamreza; Hoelker, Irmgard; Monaghan, Kristin; Winchester, Sara; Zori, Robert; Galehdari, Hamid; Bönnemann, Carsten G.; Yis, Uluc; Wirth, Brunhilde
Academic Journal
Cabet, Sara; Maheshwari, Atul; Noebels, Jeffrey; Goldman, Alica; Farrant, Mark; Cull-Candy, Stuart; Coombs, Ian; Bats, Cecile; Courchet, Julien; Studniarczyk, Dorota; Vallen, Margot; Stockler, Sylvia; Koehn, David; Louie, Kristal; Myers, Candace; Jaspan, Heather; Cech, Jennifer; Lockrow, Jason; Gerard, Elizabeth; Carvill, Gemma Louise; Shinawi, Marwan; Telegrafi, Aida; Rodan, Lance; Zarate, Yuri; Buchan, Jillian G.; Pulsifer, Kenzie; Alkhunaizi, Ebba; McNiven, Vanda; Olson, Samantha; Morrison, Jennifer; Wheeler, Patricia; McWalter, Kirsty; Monaghan, Kristin; Costin, Carrie; Rosenfeld, Jill A.; Caliebe, Almuth; Hornig, Nadine; Alrohaif, Hadil; Elshafie, Reem M.; Levy, Jonathan; Tabet, Anne-Claude; Trebossen, Vincent; Boulay, Clothilde; Rudolf, Gabrielle; Isidor, Bertrand; Cogne, Benjamin; Sanlaville, Damien; Lesca, Gaetan
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[AR] Monaghan, Kristin
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