학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Soren H. Hough; Satpal S. Jhujh; Samah W. Awwad; Simon Lam; John C. Thomas; Oliver Lewis; Thorsten Mosler; Aldo S. Bader; Lauren E. Bartik; Shane McKee; Shivarajan M. Amudhavalli; Estelle Colin; Nadirah Damseh; Emma Clement; Pilar Cacheiro; Anirban Majumdar; Damian Smedley; Isabelle Thiffault; Guido Zagnoli Vieira; Rimma Belotserkovskaya; Stephen J. Smerdon; Petra Beli; Yaron Galanty; Christopher J. Carnie; Grant S. Stewart; Stephen P. Jackson
Academic Journal
Shivarajan M. Amudhavalli; V. Paolillo; Caitlin Lawson; Melanie Patterson; J. Kussmann; A. J. Nopper; M. Lypka; Carol Saunders
American Journal of Medical Genetics Part A. 191:1425-1429
Academic Journal
Zion, Tricia N. ; Berrios, Courtney D. ; Cohen, Ana S.A. ; Bartik, Lauren ; Cross, Laura A. ; Engleman, Kendra L. ; Fleming, Emily A. ; Gadea, Randi N. ; Hughes, Susan S. ; Jenkins, Janda L. ; Kussmann, Jennifer ; Lawson, Caitlin ; Schwager, Caitlin ; Strenk, Meghan E. ; Welsh, Holly ; Rush, Eric T. ; Amudhavalli, Shivarajan M. ; Sullivan, Bonnie R. ; Zhou, Dihong ; Gannon, Jennifer L. ; Heese, Bryce A. ; Moore, Riley ; Boillat, Emelia ; Biswell, Rebecca L. ; Louiselle, Daniel A. ; Puckett, Laura M.B. ; Beyer, Shanna ; Neal, Shelby H. ; Sierant, Victoria ; McBeth, Macy ; Belden, Bradley ; Walter, Adam M. ; Gibson, Margaret ; Cheung, Warren A. ; Johnston, Jeffrey J. ; Thiffault, Isabelle ; Farrow, Emily G. ; Grundberg, Elin ; Pastinen, Tomi
In Genetics in Medicine May 2023 25(5)
Academic Journal
Maxime Cadieux‐Dion; Emily Farrow; Isabelle Thiffault; Ana S. A. Cohen; Holly Welsh; Lauren Bartik; Caitlin Schwager; Kendra Engleman; Dihong Zhou; Lei Zhang; Elena Repnikova; Shivarajan M. Amudhavalli; Carol J. Saunders
Clinical Genetics. 102:136-141
Academic Journal
Ana S.A. Cohen; Emily G. Farrow; Ahmed T. Abdelmoity; Joseph T. Alaimo; Shivarajan M. Amudhavalli; John T. Anderson; Lalit Bansal; Lauren Bartik; Primo Baybayan; Bradley Belden; Courtney D. Berrios; Rebecca L. Biswell; Pawel Buczkowicz; Orion Buske; Shreyasee Chakraborty; Warren A. Cheung; Keith A. Coffman; Ashley M. Cooper; Laura A. Cross; Tom Curran; Thuy Tien T. Dang; Mary M. Elfrink; Kendra L. Engleman; Erin D. Fecske; Cynthia Fieser; Keely Fitzgerald; Emily A. Fleming; Randi N. Gadea; Jennifer L. Gannon; Rose N. Gelineau-Morel; Margaret Gibson; Jeffrey Goldstein; Elin Grundberg; Kelsee Halpin; Brian S. Harvey; Bryce A. Heese; Wendy Hein; Suzanne M. Herd; Susan S. Hughes; Mohammed Ilyas; Jill Jacobson; Janda L. Jenkins; Shao Jiang; Jeffrey J. Johnston; Kathryn Keeler; Jonas Korlach; Jennifer Kussmann; Christine Lambert; Caitlin Lawson; Jean-Baptiste Le Pichon; James Steven Leeder; Vicki C. Little; Daniel A. Louiselle; Michael Lypka; Brittany D. McDonald; Neil Miller; Ann Modrcin; Annapoorna Nair; Shelby H. Neal; Christopher M. Oermann; Donna M. Pacicca; Kailash Pawar; Nyshele L. Posey; Nigel Price; Laura M.B. Puckett; Julio F. Quezada; Nikita Raje; William J. Rowell; Eric T. Rush; Venkatesh Sampath; Carol J. Saunders; Caitlin Schwager; Richard M. Schwend; Elizabeth Shaffer; Craig Smail; Sarah Soden; Meghan E. Strenk; Bonnie R. Sullivan; Brooke R. Sweeney; Jade B. Tam-Williams; Adam M. Walter; Holly Welsh; Aaron M. Wenger; Laurel K. Willig; Yun Yan; Scott T. Younger; Dihong Zhou; Tricia N. Zion; Isabelle Thiffault; Tomi Pastinen
Genetics in Medicine. 24:1336-1348
Academic Journal
Charlotte von der Lippe; Kristian Tveten; Trine E. Prescott; Øystein L. Holla; Øyvind L. Busk; Katherine B. Burke; Francis H. Sansbury; Júlia Baptista; Andrew E. Fry; Derek Lim; Stephen Jolles; Jennifer Evans; Deborah Osio; Carol Macmillan; Irene Bruno; Flavio Faletra; Salvador Climent; Roser Urreitzi; Janet Hoenicka; Francesc Palau; Ana S. A. Cohen; Kendra Engleman; Dihong Zhou; Shivarajan M. Amudhavalli; Médéric Jeanne; Frédérique Bonnet‐Brilhault; Jonathan Lévy; Séverine Drunat; Nicolas Derive; Marte G. Haug; Wenche M. Thorstensen
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
instname
Academic Journal
Uguen, Kévin; Krysiak, Kilannin; Audebert-Bellanger, Séverine; Redon, Sylvia; Benech, Caroline; Viora-Dupont, Eléonore; Tran Mau-Them, Frederic; Rondeau, Sophie; Elsharkawi, Ibrahim; Granadillo, Jorge L; Neidich, Julie; Soares, Celia Azevedo; Tkachenko, Natáliya; M Amudhavalli, Shivarajan; Engleman, Kendra; Boland, Anne; Deleuze, Jean-François; Bezieau, Stéphane; Odent, Sylvie; Toutain, Annick; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Faivre, Laurence; Rio, Marlène; Le Marechal, Cedric; Ferec, Claude; Repnikova, Elena; Cao, Yang
Clinical Genetics. 100:386-395
Academic Journal
Bhoj, Elizabeth J. ; Haye, Damien ; Toutain, Annick ; Bonneau, Dominique ; Nielsen, Irene Kibæk ; Lund, Ida Bay ; Bogaard, Pauline ; Leenskjold, Stine ; Karaer, Kadri ; Wild, Katherine T. ; Grand, Katheryn L. ; Astiazaran, Mirena C. ; Gonzalez-Nieto, Luis A. ; Carvalho, Ana ; Lehalle, Daphné ; Amudhavalli, Shivarajan M. ; Repnikova, Elena ; Saunders, Carol ; Thiffault, Isabelle ; Saadi, Irfan ; Li, Dong ; Hakonarson, Hakon ; Vial, Yoann ; Zackai, Elaine ; Callier, Patrick ; Drunat, Séverine ; Verloes, Alain
In European Journal of Medical Genetics December 2019 62(12)
Academic Journal
Jorge Luis Granadillo; Alexander P.A. Stegmann; Hui Guo; Kun Xia; Brad Angle; Kelly Bontempo; Judith D Ranells; Patricia Newkirk; Carrie Costin; Joleen Viront; Constanze T Stumpel; Margje Sinnema; Bianca Panis; Rolph Pfundt; Ingrid P C Krapels; Merel Klaassens; Joost Nicolai; Jinliang Li; Yuwu Jiang; Elysa Marco; Ana Canton; Ana Claudia Latronico; Luciana Montenegro; Bruno Leheup; Celine Bonnet; Shivarajan M. Amudhavalli; Caitlin E Lawson; Kirsty McWalter; Aida Telegrafi; Richard Pearson; Malin Kvarnung; Xia Wang; Weimin Bi; Jill Anne Rosenfeld; Marwan Shinawi
Journal of Medical Genetics, 57, 10, pp. 717-724
Academic Journal
Laura A, Cross; Kirsty, McWalter; Jennifer, Keller-Ramey; Lindsay B, Henderson; Shivarajan M, Amudhavalli
Clinical Dysmorphology. 29:161-164
Academic Journal
American Journal of Medical Genetics Part A. 176:1648-1656
Academic Journal
Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; Amudhavalli, Shivarajan M.
Clinical Dysmorphology. Jul 01, 2020 29(3):161-164
Academic Journal
American Journal of Medical Genetics Part A. 167:3219-3225
Academic Journal
den Hoed, Joery ; de Boer, Elke ; Voisin, Norine ; Dingemans, Alexander J.M. ; Guex, Nicolas ; Wiel, Laurens ; Nellaker, Christoffer ; Amudhavalli, Shivarajan M. ; Banka, Siddharth ; Bena, Frederique S. ; Ben-Zeev, Bruria ; Bonagura, Vincent R. ; Bruel, Ange-Line ; Brunet, Theresa ; Brunner, Han G. ; Chew, Hui B. ; Chrast, Jacqueline ; Cimbalistienė, Loreta ; Coon, Hilary ; Délot, Emmanuèlle C. ; Démurger, Florence ; Denommé-Pichon, Anne-Sophie ; Depienne, Christel ; Donnai, Dian ; Dyment, David A. ; Elpeleg, Orly ; Faivre, Laurence ; Gilissen, Christian ; Granger, Leslie ; Haber, Benjamin ; Hachiya, Yasuo ; Abedi, Yasmin Hamzavi ; Hanebeck, Jennifer ; Hehir-Kwa, Jayne Y. ; Horist, Brooke ; Itai, Toshiyuki ; Jackson, Adam ; Jewell, Rosalyn ; Jones, Kelly L. ; Joss, Shelagh ; Kashii, Hirofumi ; Kato, Mitsuhiro ; Kattentidt-Mouravieva, Anja A. ; Kok, Fernando ; Kotzaeridou, Urania ; Krishnamurthy, Vidya ; Kučinskas, Vaidutis ; Kuechler, Alma ; Lavillaureix, Alinoë ; Liu, Pengfei ; Manwaring, Linda ; Matsumoto, Naomichi ; Mazel, Benoît ; McWalter, Kirsty ; Meiner, Vardiella ; Mikati, Mohamad A. ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Moey, Lip H. ; Mohammed, Shehla ; Mor-Shaked, Hagar ; Mountford, Hayley ; Newbury-Ecob, Ruth ; Odent, Sylvie ; Orec, Laura ; Osmond, Matthew ; Palculict, Timothy B. ; Parker, Michael ; Petersen, Andrea K. ; Pfundt, Rolph ; Preikšaitienė, Eglė ; Radtke, Kelly ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Santiago-Sim, Teresa ; Schwager, Caitlin ; Sinnema, Margje ; Snijders Blok, Lot ; Spillmann, Rebecca C. ; Stegmann, Alexander P.A. ; Thiffault, Isabelle ; Tran, Linh ; Vaknin-Dembinsky, Adi ; Vedovato-dos-Santos, Juliana H. ; Schrier Vergano, Samantha A. ; Vilain, Eric ; Vitobello, Antonio ; Wagner, Matias ; Waheeb, Androu ; Willing, Marcia ; Zuccarelli, Britton ; Kini, Usha ; Newbury, Dianne F. ; Kleefstra, Tjitske ; Reymond, Alexandre ; Fisher, Simon E. ; Vissers, Lisenka E.L.M.
In The American Journal of Human Genetics 4 February 2021 108(2):346-356
Review
null Kévin Uguen; null Kilannin Krysiak; null Séverine Audebert‐Bellanger; null Sylvia Redon; null Caroline Benech; null Eléonore Viora‐Dupont; null Frederic Tran Mau‐Them; null Sophie Rondeau; null Ibrahim Elsharkawi; null Jorge L. Granadillo; null Julie Neidich; null Celia Azevedo Soares; null Natáliya Tkachenko; null Shivarajan M. Amudhavalli; null Kendra Engleman; null Anne Boland; null Jean‐François Deleuze; null Stéphane Bezieau; null Sylvie Odent; null Annick Toutain; null Dominique Bonneau; null Brigitte Gilbert‐Dussardier; null Laurence Faivre; null Marlène Rio; null Cedric Le Marechal; null Claude Ferec; null Elena Repnikova; null Yang Cao
Academic Journal
William Burns; Lynne M. Bird; Delphine Heron; Boris Keren; Divya Ramachandra; Isabelle Thiffault; Florencia Del Viso; Shivarajan Amudhavalli; Kendra Engleman; Ilaria Parenti; Frank J. Kaiser; Jolanta Wierzba; Korbinian M. Riedhammer; Susanne Liptay; Neda Zadeh; Joseph Porrmann; Andrea Fischer; Sophie Gößwein; Heather M. McLaughlin; Aida Telegrafi; Katherine G. Langley; Richard Steet; Raymond J. Louie; Michael J. Lyons
American Journal of Medical Genetics Part A. 185:2863-2872
Academic Journal
Pailler-Pradeau, Clara; Mattioli, Francesca; Lemee, Marianne; Darvish, Hossein; Travaglini, Lorena; Colafati, Giovanna Stefania; Nicita, Francesco; Amudhavalli, Shivarajan M.; Lawson, Caitlin; Musante, Luciana; Girotto, Giorgia; Faletra, Flavio; Zanni, Ginevra; Antonarakis, Stylianos; Ansar, Muhammad; Guex, Nicolas; Golzio, Christelle; Reymond, Alexandre
Academic Journal
von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Oystein L.; Busk, Oyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Julia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Salvador; Urreitzi, Roser; Hoenicka, Janet; Palau, Francesc; Cohen, Ana S. A.; Engleman, Kendra; Zhou, Dihong; Amudhavalli, Shivarajan M.; Jeanne, Mederic; Bonnet-Brilhault, Frederique; Levy, Jonathan; Drunat, Severine; Derive, Nicolas; Haug, Marte G.; Thorstensen, Wenche M.
Academic Journal
Uguen, Kevin; Krysiak, Kilannin; Bellanger, Severine Audebert; Quemener, Sylvia; Benech, Caroline; Viora-Dupont, Eleonore; Mau-Them, Frederic Tran; Rondeau, Sophie; Elsharkawi, Ibrahim; Granadillo De Luque, Jorge Luis; Neidich, Julie; Soares, Celia Azevedo; Tkachenko, Natalia; Shivarajan, M. Amudhavalli; Engleman, Kendra; Boland, Anne; Deleuze, Jean-Francois; Bezieau, Stephane; Odent, Sylvie; Toutain, Annick; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Faivre, Laurence; Rio, Marlene; Le Marechal, Cedric; Ferec, Claude; Repnikova, Elena; Cao, Yang
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[검색어] Amudhavalli, Shivarajan M.
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