학술논문
'학술논문'
에서 검색결과 272건 | 목록
20~30
Academic Journal
Habiby, Reema; Bichet, Daniel G.; Arthus, Marie-Francoise; Connaughton, Dervia; Shril, Shirlee; Mane, Shrikant; Majmundar, Amar J.; Hildebrandt, Friedhelm; Robertson, Gary L.
Journal of Clinical Endocrinology & Metabolism. June 2022, Vol. 107 Issue 6, pe2513, 10 p.
Academic Journal
Elmubarak, Izzeldin; Shril, Shirlee; Mansour, Bshara; Bao, Aaron; Kolvenbach, Caroline M.; Kari, Jameela A.; Shalaby, Mohamed A.; El Desoky, Sherif; Hildebrandt, Friedhelm; Schneider, Ronen
Academic Journal
Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne
Academic Journal
Wu, Chen-Han Wilfred; Lim, Tze Y.; Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Schierbaum, Luca; Schneider, Sophia; Mann, Nina; Connaughton, Dervla M.; Nakayama, Makiko; van der Ven, Amelie T.; Dai, Rufeng; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Stajic, Natasa; Soliman, Neveen A.; Kari, Jameela A.; El Desoky, Sherif; Fathy, Hanan M.; Milosevic, Danko; Turudic, Daniel; Al Saffar, Muna; Awad, Hazem S.; Eid, Loai A.; Ramanathan, Aravind; Senguttuvan, Prabha; Mane, Shrikant M.; Lee, Richard S.; Bauer, Stuart B.; Lu, Weining; Hilger, Alina C.; Tasic, Velibor; Shril, Shirlee; Sanna-Cherchi, Simone; Hildebrandt, Friedhelm
In European Urology Open Science October 2022 44:106-112
Academic Journal
Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T. Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araujo, Camila; Machado, Helio R.; George, Renee; Gerding, Bryn; James, Kiely N.; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S.; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H.; Kibar, Zoha; Marwan, Ahmed I.; Melikishvili, Gia; Meltzer, Hal S.; Mutchinick, Osvaldo M.; Stevenson, David A.; Mroczkowski, Henry J.; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H.; Emanuel, Beverly S.; Garcia-Minaur, Sixto; Nowakowska, Beata A.; Stevenson, Roger E.; Zaki, Maha S.; Northrup, Hope; McNamara, Hanna K.; Aldinger, Kimberly A.; Phelps, Ian G.; Deng, Mei; Glass, Ian A.; Koch, Allison Elizabeth Ashley; Le, Joan; Lupo, Philip J.; Magana, Tony; Marwan, Ahmed, I; Yurrita, Anna; Medina-Bereciartu, Jose Ramon; Kolvenbach, Caroline M.; Shril, Shirlee; Hildebrandt, Friedhelm; Noureldeen, Mahmoud M.; Salem, Aida MS.; Takahashi, Yukitoshi; Salimi-Dafsari, Hormos; Phillips, H. Westley; Hanak, Brian; Kara, Bulent; Gunes, Ayfer Sakarya; Gonda, David D.; Kirmani, Salman; Tkemaladze, Tinatin; Morrow, Bernice; McDonald-McGinn, Donna M.; Sanna-Cherchi, Simone; Lamb, Dolores J.; Gleeson, Joseph G.; Spina Bifida Sequencing Consortium
Academic Journal
Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David; Batourina, Ekaterina; Sampson, Matthew; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina; Vivante, Asaf; Shril, Shirlee; Kil, Byum; Marasà, Maddalena; Zhang, Jun; Na, Young-Ji; Lim, Tze; Ahram, Dina; Weng, Patricia; Heinzen, Erin; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmoliński, Tomasz; Borszewska-Kornacka, Maria; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark; Darlow, John; Puri, Prem; Barton, David; Furth, Susan; Warady, Bradley; Gucev, Zoran; Lozanovski, Vladimir; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida; Campistol, Josep; Jeanpierre, Cécile; Alam, Shumyle; Casale, Pasquale; Wong, Craig; Lin, Fangming; Miranda, Débora; Oliveira, Eduardo; Simões-E-Silva, Ana; Barasch, Jonathan; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia; Mendelsohn, Cathy; Gharavi, Ali; Sanna-Cherchi, Simone
Nature Genetics. 51(1)
Academic Journal
Münch, Johannes; Engesser, Marie; Schönauer, Ria; Hamm, J. Austin; Hartig, Christin; Hantmann, Elena; Akay, Gulsen; Pehlivan, Davut; Mitani, Tadahiro; Coban Akdemir, Zeynep; Tüysüz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura R.; van Eerde, Albertien M.; Smol, Thomas; Devisme, Louise; Franquet, Hélène; Attié-Bitach, Tania; Wagner, Timo; Bergmann, Carsten; Höhn, Anne Kathrin; Shril, Shirlee; Pollack, Ari; Wenger, Tara; Scott, Abbey A.; Paolucci, Sarah; Buchan, Jillian; Gabriel, George C.; Posey, Jennifer E.; Lupski, James R.; Petit, Florence; McCarthy, Andrew A.; Pazour, Gregory J.; Lo, Cecilia W.; Popp, Bernt; Halbritter, Jan
In Kidney International May 2022 101(5):1039-1053
Academic Journal
Ihsan Ullah; Isabel Ottlewski; Wasim Shehzad; Amjad Riaz; Sadaqat Ijaz; Asad Tufail; Hafiza Ammara; Shrikant Mane; Shirlee Shril; Friedhelm Hildebrandt; Muhammad Yasir Zahoor; Amar J. Majmundar
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Academic Journal
Stegmann, Jil D.; Kalanithy, Jeshurun C.; Dworschak, Gabriel C.; Ishorst, Nina; Mingardo, Enrico; Lopes, Filipa M.; Ho, Yee Mang; Grote, Phillip; Lindenberg, Tobias T.; Yilmaz, Oeznur; Channab, Khadija; Seltzsam, Steve; Shril, Shirlee; Hildebrandt, Friedhelm; Boschann, Felix; Heinen, Andre; Jolly, Angad; Myers, Katherine; Mcbride, Kim; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Capra, Valeria; Accogli, Andrea; Maitz, Silvia; Spano, Alice; Olson, Rory J.; Klee, Eric W.; Lanpher, Brendan C.; Jang, Se Song; Chae, Jong-Hee; Steinbauer, Philipp; Rieder, Dietmar; Janecke, Andreas R.; Vodopiutz, Julia; Vogel, Ida; Blechingberg, Jenny; Cohen, Jennifer L.; Riley, Kacie; Klee, Victoria; Walsh, Laurence E.; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas; Stoppe, Arzu; Stuurman, Kyra; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Mulhern, Maureen S.; Sands, Tristan T.; Cytrynbaum, Cheryl; Weksberg, Rosanna; Isidori, Federica; Pippucci, Tommaso; Severi, Giulia; Montanari, Francesca; Kruer, Michael C.; Bakhtiari, Somayeh; Darvish, Hossein; Reutter, Heiko; Hagelueken, Gregor; Geyer, Matthias; Woolf, Adrian S.; Posey, Jennifer E.; Lupski, James R.; Odermatt, Benjamin; Hilger, Alina C.
Academic Journal
Chaozhe Yang; Naoe Harafuji; Amber K. O’Connor; Robert A. Kesterson; Jacob A. Watts; Amar J. Majmundar; Daniela A. Braun; Monkol Lek; Kristen M. Laricchia; Hanan M. Fathy; Shrikant Mane; Shirlee Shril; Friedhelm Hildebrandt; Lisa M. Guay-Woodford
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
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