학술논문
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'학술논문'
에서 검색결과 25건 | 목록
1~20
Academic Journal
Jennifer A. McKenzie; Erin McRoy; Kevin M. Bowling; Jorge Luis Granadillo De Luque; Jessica Mozersky; Erin Linnenbringer; Dustin Baldridge; Jonathan W. Heusel; Julie A. Neidich; Amanda F. Cashen; Laura J. Bierut; Sarah M. Hartz; Christina A. Gurnett
Journal of Clinical and Translational Science, Vol 9 (2025)
Academic Journal
Kevin M. Bowling; Michelle L. Thompson; Melissa A. Kelly; Sarah Scollon; Anne M. Slavotinek; Bradford C. Powell; Brian M. Kirmse; Laura G. Hendon; Kyle B. Brothers; Bruce R. Korf; Gregory M. Cooper; John M. Greally; Anna C. E. Hurst
Genome Medicine, Vol 14, Iss 1, Pp 1-17 (2022)
Academic Journal
Nita A Limdi; Devin Absher; Irf Asif; Lori Bateman; Greg Barsh; Kevin M. Bowling; Gregory M. Cooper; Brittney H. Davis; Kelly M. East; Candice R. Finnila; Blake Goff; Susan Hiatt; Melissa Kelly; Whitley V. Kelley; Bruce R. Korf; Donald R. Latner; James Lawlor; Thomas May; Matt Might; Irene P. Moss; Mariko Nakano-Okuno; Tiffany Osborne; Stephen Sodeke; Adriana Stout; Michelle L. Thompson
Journal of Clinical and Translational Science, Vol 7, Pp 100-101 (2023)
Academic Journal
Susan M. Hiatt; James M.J. Lawlor; Lori H. Handley; Ryne C. Ramaker; Brianne B. Rogers; E. Christopher Partridge; Lori Beth Boston; Melissa Williams; Christopher B. Plott; Jerry Jenkins; David E. Gray; James M. Holt; Kevin M. Bowling; E. Martina Bebin; Jane Grimwood; Jeremy Schmutz; Gregory M. Cooper
HGG Advances, Vol 2, Iss 2, Pp 100023- (2021)
Academic Journal
Ryne C. Ramaker; Kevin M. Bowling; Brittany N. Lasseigne; Megan H. Hagenauer; Andrew A. Hardigan; Nicholas S. Davis; Jason Gertz; Preston M. Cartagena; David M. Walsh; Marquis P. Vawter; Edward G. Jones; Alan F. Schatzberg; Jack D. Barchas; Stanley J. Watson; Blynn G. Bunney; Huda Akil; William E. Bunney; Jun Z. Li; Sara J. Cooper; Richard M. Myers
Genome Medicine, Vol 9, Iss 1, Pp 1-12 (2017)
Academic Journal
Kevin M. Bowling; Michelle L. Thompson; Michelle D. Amaral; Candice R. Finnila; Susan M. Hiatt; Krysta L. Engel; J. Nicholas Cochran; Kyle B. Brothers; Kelly M. East; David E. Gray; Whitley V. Kelley; Neil E. Lamb; Edward J. Lose; Carla A. Rich; Shirley Simmons; Jana S. Whittle; Benjamin T. Weaver; Amy S. Nesmith; Richard M. Myers; Gregory S. Barsh; E. Martina Bebin; Gregory M. Cooper
Genome Medicine, Vol 9, Iss 1, Pp 1-11 (2017)
Academic Journal
Alexa Dickson; Kelsey R. Cone; Barbara K. Fortini; Jennifer Goldstein; Michelle L. Thompson; Matheus V.M.B. Wilke; Anna C.E. Hurst; Molly C. Schroeder; Katarzyna Polonis; Kevin M. Bowling
The Journal of Molecular Diagnostics. 27:936-944
Academic Journal
Reza Ghasemi; Meagan M. Corliss; Kevin M. Bowling; Kilannin Krysiak; Jason Walker; Alexa M. Dickson; Molly C. Schroeder; Bijal A. Parikh; Julie A. Neidich; Katarzyna Polonis; Yang Cao
Clinical Genetics. 107:458-462
Academic Journal
Fernando Zazueta Leon‐Quintero; Kevin M. Bowling; Alexa Dickson; Meagan M. Corliss; Molly C. Schroeder; Julie A. Neidich; Jonathan W. Heusel; Kilannin Krysiak; Katarzyna Polonis; Bijal A. Parikh; Yang Cao
Clinical Genetics. 107:261-270
Academic Journal
Kelly M. East; Whitley V. Kelley; Ashley Cannon; Meagan E. Cochran; Irene P. Moss; Thomas May; Mariko Nakano-Okuno; Stephen O. Sodeke; Jeffrey C. Edberg; James J. Cimino; Mona Fouad; William A. Curry; Anna C.E. Hurst; Kevin M. Bowling; Michelle L. Thompson; E. Martina Bebin; Robert D. Johnson; Aras Acemgil; David K. Crossman; Candice R. Finnila; David E. Gray; Veronica Greve; Sharonda Hardy; Susan M. Hiatt; Donald R. Latner; James M.J. Lawlor; Edrika L. Miskell; Whitney Narmore; Julie H. Schach; Gregory M. Cooper; Matthew Might; Gregory S. Barsh; Bruce R. Korf
Genetics in Medicine. 23:777-781
Academic Journal
Kevin M. Bowling; Michelle L. Thompson; David E. Gray; James M.J. Lawlor; Kelly Williams; Kelly M. East; Whitley V. Kelley; Irene P. Moss; Devin M. Absher; E.Christopher Partridge; Anna C.E. Hurst; Jeffrey C. Edberg; Gregory S. Barsh; Bruce R. Korf; Gregory M. Cooper
Genetics in Medicine. 23:280-288
Academic Journal
Kevin E. Glinton; Anna Hurst; Kevin M. Bowling; Ingrid Cristian; Devon Haynes; Dusit Adstamongkonkul; Oskar Schnappauf; David B. Beck; Carole Brewer; Aditi Parikh; Deepali N. Shinde; Alan Donaldson; Ariel Brautbar; Saskia Koene; Arie van Haeringen; Amélie Piton; Yline Capri; Margherita Furlan; Elena Gardella; Rikke S. Møller; Irma van de Beek; Linda Zuurbier; Phillis Lakeman; Allan Bayat; Julian Martínez; Rebecca Signer; Pernille Mathiesen Tørring; Morten Buch Engelund; Karen W. Gripp; Louise Amlie‐Wolf; Lindsay B. Henderson; Alina T Midro; Eugeniusz Tarasów; Beata Stasiewicz‐Jarocka; Diana Moskal-Jasińska; Paul De Vos; Felix Boschann; Corinna Stoltenburg; Oliver Puk; Inger-Lise Mero; Kristine Lossius; Cyril Mignot; Boris Keren; Johanna Carolina Acosta Guio; Ignacio Briceño; Alberto Gómez; Yaping Yang; Paweł Stankiewicz
Am J Med Genet A
Glinton, K E, Hurst, A C E, Bowling, K M, Cristian, I, Haynes, D, Adstamongkonkul, D, Schnappauf, O, Beck, D B, Brewer, C, Parikh, A S, Shinde, D N, Donaldson, A, Brautbar, A, Koene, S, van Haeringen, A, Piton, A, Capri, Y, Furlan, M, Gardella, E, Møller, R S, van de Beek, I, Zuurbier, L, Lakeman, P, Bayat, A, Martinez, J, Signer, R, Torring, P M, Engelund, M B, Gripp, K W, Amlie-Wolf, L, Henderson, L B, Midro, A T, Tarasów, E, Stasiewicz-Jarocka, B, Moskal-Jasinska, D, Vos, P, Boschann, F, Stoltenburg, C, Puk, O, Mero, I L, Lossius, K, Mignot, C, Keren, B, Acosta Guio, J C, Briceño, I, Gomez, A, Yang, Y & Stankiewicz, P 2021, ' Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ', American Journal of Medical Genetics, Part A, vol. 185, no. 5, pp. 1366-1378 . https://doi.org/10.1002/ajmg.a.62102
Glinton, K E, Hurst, A C E, Bowling, K M, Cristian, I, Haynes, D, Adstamongkonkul, D, Schnappauf, O, Beck, D B, Brewer, C, Parikh, A S, Shinde, D N, Donaldson, A, Brautbar, A, Koene, S, van Haeringen, A, Piton, A, Capri, Y, Furlan, M, Gardella, E, Møller, R S, van de Beek, I, Zuurbier, L, Lakeman, P, Bayat, A, Martinez, J, Signer, R, Torring, P M, Engelund, M B, Gripp, K W, Amlie-Wolf, L, Henderson, L B, Midro, A T, Tarasów, E, Stasiewicz-Jarocka, B, Moskal-Jasinska, D, Vos, P, Boschann, F, Stoltenburg, C, Puk, O, Mero, I L, Lossius, K, Mignot, C, Keren, B, Acosta Guio, J C, Briceño, I, Gomez, A, Yang, Y & Stankiewicz, P 2021, ' Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ', American Journal of Medical Genetics, Part A, vol. 185, no. 5, pp. 1366-1378 . https://doi.org/10.1002/ajmg.a.62102
Academic Journal
Kathryn M. Porter; Tia L. Kauffman; Barbara A. Koenig; Katie L. Lewis; Heidi L. Rehm; Carolyn Sue Richards; Natasha T. Strande; Holly K. Tabor; Susan M. Wolf; Yaping Yang; Laura M. Amendola; Danielle R. Azzariti; Jonathan S. Berg; Katie Bergstrom; Leslie G. Biesecker; Sawona Biswas; Kevin M. Bowling; Wendy K. Chung; Ellen W. Clayton; Laura K. Conlin; Gregory M. Cooper; Matthew C. Dulik; Levi A. Garraway; Arezou A. Ghazani; Robert C. Green; Susan M. Hiatt; Seema M. Jamal; Gail P. Jarvik; Katrina A. B. Goddard; Benjamin S. Wilfond
Mol Genet Genomic Med
Academic Journal
Lot Snijders Blok; Susan M. Hiatt; Kevin M. Bowling; Jeremy W. Prokop; Krysta L. Engel; J. Nicholas Cochran; E. Martina Bebin; Emilia K. Bijlsma; Claudia A. L. Ruivenkamp; Paulien Terhal; Marleen E. H. Simon; Rosemarie Smith; Jane A. Hurst; Heather McLaughlin; Richard Person; Amy Crunk; Michael F. Wangler; Haley Streff; Joseph D. Symonds; Sameer M. Zuberi; Katherine S. Elliott; Victoria R. Sanders; Abigail Masunga; Robert J. Hopkin; Holly A. Dubbs; Xilma R. Ortiz-Gonzalez; Rolph Pfundt; Han G. Brunner; Simon E. Fisher; Tjitske Kleefstra; Gregory M. Cooper
Human Genetics
Hum Genet
Human Genetics, 137, 5, pp. 375-388
Hum Genet
Human Genetics, 137, 5, pp. 375-388
Academic Journal
Kevin M. Bowling; Michelle L. Thompson; Candice R. Finnila; Susan M. Hiatt; Donald R. Latner; Michelle D. Amaral; James M.J. Lawlor; Kelly M. East; Meagan E. Cochran; Veronica Greve; Whitley V. Kelley; David E. Gray; Stephanie A. Felker; Hannah Meddaugh; Ashley Cannon; Amanda Luedecke; Kelly E. Jackson; Laura G. Hendon; Hillary M. Janani; Marla Johnston; Lee Ann Merin; Sarah L. Deans; Carly Tuura; Heather Williams; Kelly Laborde; Matthew B. Neu; Jessica Patrick-Esteve; Anna C.E. Hurst; Jegen Kandasamy; Wally Carlo; Kyle B. Brothers; Brian M. Kirmse; Renate Savich; Duane Superneau; Steven B. Spedale; Sara J. Knight; Gregory S. Barsh; Bruce R. Korf; Gregory M. Cooper
Academic Journal
Stephanie A. Felker; James M.J. Lawlor; Susan M. Hiatt; Michelle L. Thompson; Donald R. Latner; Candice R. Finnila; Kevin M. Bowling; Zachary T. Bonnstetter; Katherine E. Bonini; Nicole R. Kelly; Whitley V. Kelley; Anna C.E. Hurst; Salman Rashid; Melissa A. Kelly; Ghunwa Nakouzi; Laura G. Hendon; E. Martina Bebin; Eimear E. Kenny; Gregory M. Cooper
Genetics in Medicine. 25:100884
Academic Journal
Amy A. Lemke; Michelle L. Thompson; Emily C. Gimpel; Katelyn C. McNamara; Carla A. Rich; Candice R. Finnila; Meagan E. Cochran; James M. J. Lawlor; Kelly M. East; Kevin M. Bowling; Donald R. Latner; Susan M. Hiatt; Michelle D. Amaral; Whitley V. Kelley; Veronica Greve; David E. Gray; Stephanie A. Felker; Hannah Meddaugh; Ashley Cannon; Amanda Luedecke; Kelly E. Jackson; Laura G. Hendon; Hillary M. Janani; Marla Johnston; Lee Ann Merin; Sarah L. Deans; Carly Tuura; Trent Hughes; Heather Williams; Kelly Laborde; Matthew B. Neu; Jessica Patrick-Esteve; Anna C. E. Hurst; Brian M. Kirmse; Renate Savich; Steven B. Spedale; Sara J. Knight; Gregory S. Barsh; Bruce R. Korf; Gregory M. Cooper; Kyle B. Brothers
J Pers Med
Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1026
Journal of Personalized Medicine; Volume 13; Issue 7; Pages: 1026
Book
Secondary Findings in Genomic Research ISBN: 9780128165492
Academic Journal
Susan M. Hiatt; James M.J. Lawlor; Lori H. Handley; Ryne C. Ramaker; Brianne B. Rogers; E. Christopher Partridge; Lori Beth Boston; Melissa Williams; Christopher B. Plott; Jerry Jenkins; David E. Gray; James M. Holt; Kevin M. Bowling; E. Martina Bebin; Jane Grimwood; Jeremy Schmutz; Gregory M. Cooper
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[AR] Kevin M. Bowling
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