학술논문
'학술논문'
에서 검색결과 52건 | 목록
1~10
Periodical
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y.V.; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P.A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p135-142, 8p
Academic Journal
Coulie, Richard; Niyazov, Dmitriy M.; Gambello, Michael J.; Fastré, Elodie; Brouillard, Pascal; Vikkula, Miikka
American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2153-2159, 7p
Academic Journal
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza
Academic Journal
Glielmi, Christopher B.; Butler, Andrew J.; Niyazov, Dmitriy M.; Darling, Warren G.; Epstein, Charles M.; Alberts, Jay L.; Hu, Xiaoping P.
Academic Journal
Gauquelin, Laurence; Cayami, Ferdy K.; Sztriha, László; Yoon, Grace; Tran, Luan T.; Guerrero, Kether; Hocke, François; van Spaendonk, Rosalina M.L.; Fung, Eva L.; DʼArrigo, Stefano; Vasco, Gessica; Thiffault, Isabelle; Niyazov, Dmitriy M.; Person, Richard; Lewis, Kara Stuart; Wassmer, Evangeline; Prescott, Trine; Fallon, Penny; McEntagart, Meriel; Rankin, Julia; Webster, Richard; Philippi, Heike; van de Warrenburg, Bart; Timmann, Dagmar; Dixit, Abhijit; Searle, Claire; Thakur, Nivedita; Kruer, Michael C.; Sharma, Suvasini; Vanderver, Adeline; Tonduti, Davide; van der Knaap, Marjo S.; Bertini, Enrico; Goizet, Cyril; Fribourg, Sébastien; Wolf, Nicole I.; Bernard, Geneviève
Neurology: Genetics. Dec 01, 2019 5(6)
Academic Journal
Rose, Shannon; Niyazov, Dmitriy M.; Rossignol, Daniel A.; Goldenthal, Michael; Kahler, Stephen G.; Frye, Richard E.
Academic Journal
Lahrouchi, Najim; Postma, Alex V.; Salazar, Christian M.; Laughter, Daniel M. De; Tjong, Fleur; Piherova, Lenka; Bowling, Forrest Z.; Zimmerman, Dominic; Lodder, Elisabeth M.; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Skoric-Milosavljevic, Doris; Stranecky, Viktor; Tomek, Viktor; Knijff, Peter de; Leeuw, Rick de; Robinson, Jamille Y.; Burn, Sabrina C.; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M.; Wolf, Barry; Kim, Katherine H.; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denomme-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C.; Harkel, Arend D. J. Ten; Manten, Gwendolyn T. R.; Dutman, Annemiek C.; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs W. E.; Herkert, Johanna C.; Brown, H. Alex; Elpeleg, Orly; Hoff, Maurice J. B. van den; Mulder, Barbara; Airola, Michael V.; Kmoch, Stanislav; Barnett, Joey V.; Clur, Sally-Ann; Frohman, Michael A.; Bezzina, Connie R.
Academic Journal
Kazi, Zoheb B.; Desai, Ankit K.; Troxler, R. Bradley; Kronn, David; Packman, Seymour; Sabbadini, Marta; Rizzo, William B.; Scherer, Katalin; Abdul-Rahman, Omar; Tanpaiboon, Pranoot; Nampoothiri, Sheela; Gupta, Neerja; Feigenbaum, Annette; Niyazov, Dmitriy M.; Sherry, Langston; Segel, Reeval; McVie-Wylie, Alison; Sung, Crystal; Joseph, Alexandra M.; Richards, Susan; Kishnani, Priya S.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):887-895
Academic Journal
Molecular Syndromology; Jul2016, Vol. 7 Issue 3, p122-137, 16p
Academic Journal
Ballif, Blake C.; Rosenfeld, Jill A.; Traylor, Ryan; Theisen, Aaron; Bader, Patricia I.; Ladda, Roger L.; Sell, Susan L.; Steinraths, Michelle; Surti, Urvashi; McGuire, Marianne; Williams, Shelley; Farrell, Sandra A.; Filiano, James; Schnur, Rhonda E.; Coffey, Lauren B.; Tervo, Raymond C.; Stroud, Tracy; Marble, Michael; Netzloff, Michael; Hanson, Kristen; Aylsworth, Arthur S.; Bamforth, J.S.; Babu, Deepti; Niyazov, Dmitriy M.; Ravnan, J. Britt; Schultz, Roger A.; Lamb, Allen N.; Torchia, Beth S.; Bejjani, Bassem A.; Shaffer, Lisa G.
Human Genetics. January 1, 2012, Vol. 131 Issue 1, p145, 12 p.
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[AR] Niyazov, Dmitriy M.
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