학술논문
'학술논문'
에서 검색결과 197건 | 목록
30~40
Academic Journal
Sturrock, Beattie R.H.; Macnamara, Ellen F.; Mcguire, Peter; Kruk, Shannon; Yang, Ivan; Murphy, Jennifer; Tifft, Cyndi J.; Gordon‐Lipkin, Eliza; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Godfrey, Rena A.; Golden‐Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Leblanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macrae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mccauley, Jacob; Mcconkie‐Rosell, Allyn; Mccormack, Colleen E.; Mccray, Alexa T.; Mcgee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano‐Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica‐Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tan, Queenie K.‐G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan
Molecular Genetics & Genomic Medicine. June 2021, Vol. 9 Issue 6
Academic Journal
Baldridge, Dustin; Wangler, Michael F.; Bowman, Angela N.; Yamamoto, Shinya; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan
Orphanet Journal of Rare Diseases. May 7, 2021, Vol. 16 Issue 1
Book
In Nelson. Tratado de pediatría Edition: Twentieth Edition. 2016:659-663
Abzug, Mark J.; Adams, David R.; Adelson, Stewart L.; Aiken, John J.; Akay, Begum; Akdis, Cezmi A.; Alessandrini, Evaline A.; Alexander, Michael A.; Ali, Omar; Ambalavanan, Namasivayam; Anderson, Karl E.; Anderson, Peter M.; Anthony, Kelly K.; Antoon, Alia Y.; Apkon, Susan D.; Ardoin, Stacy P.; Ardura, Monica I.; Ariss, Michelle M.; Armangué, Thaís; Arndt, Carola A.S.; Arnon, Stephen S.; Aronoff, Stephen C.; Asher, David M.; Ashworth, Ann; Asselin, Barbara L.; Ater, Joann L.; Augustine, Erika F.; Augustyn, Marilyn C.; Avner, Ellis D.; Bacino, Carlos A.; Baldassano, Robert N.; Baldwin, Keith D.; Bales, Christina; Balistreri, William F.; Baltimore, Robert S.; Balwani, Manisha; Barron, Christine E.; Barron, Karyl S.; Bass, Dorsey M.; Batshaw, Mark L.; Bauer, Nerissa S.; Bayer, Michelle L.; Behrman, Richard E.; Bell, Michael J.; Belmont, John W.; Benjamin, Daniel K., Jr.; Bennett, Michael J.; Benseler, Susanne M.; Bernstein, Daniel; Bhutta, Zulfiqar Ahmed; Blanchard, Samra S.; Blatter, Joshua A.; Bleyer, Archie; Boas, Steven R.; Bockting, Walter O.; Boerkoel, Neal F.; Bogdanovic, Natalija; Boguniewicz, Mark; Bonthius, Daniel J.; Bordini, Brett J.; Boyer, Kenneth M.; Brandow, Amanda M.; Branski, †David; Breault, David T.; Britt, William J.; Bryan, Angela R.; Buckley, Rebecca H.; Budek, Cynthia Etzler; Buescher, E. Stephen; Bunyavanich, Supinda; Burnham, Carey-Ann D.; Burstein, Gale R.; Bustinduy, Amaya L.; Cabada, Miguel M.; Caglar, Derya; Cairo, Mitchell S.; Camarda, Lauren E.; Camitta, Bruce M.; Campbell, Angela J.P.; Carlo, Waldemar A.; Carrigan, Robert B.; Caserta, Mary T.; Casey, Denise; Chadwick, Ellen Gould; Chamberlain, Lisa J.; Chapman, Jennifer I.; Cheifetz, Ira M.; Chemaitilly, Wassim; Chen, Yuan-Tsong; Chesney, Russell W.; Chiriboga, Jennifer A.; Chiu, Yvonne E.; Cho, Christine B.; Christensen, Robert D.; Chu, Andrew; Chusid, Michael J.; Cieslak, Col. Theodore J.; Clark, Jeff A.; Cleary, Thomas G.; Clemens, John David; Coates, Bria M.; Coates, Thomas D.; Cohen, Joanna S.; Cohen, Mitchell B.; Cohen-Wolkowiez, Michael; Colbert, Robert A.; Cole, F. Sessions, III; Colombo, John L.; Congeni, Joseph A.; Conroy, Christine M.; Cooper, Amber R.; Covar, Ronina A.; Crowe, James E., Jr.; Czinn, Steve J.; Dalmau, Josep O.; Darville, Toni; Daum, Robert S.; Davidson, Loren T.; Davidson, Richard S.; Davies, H. Dele; Daw, Najat C.; Dayan, Peter S.; DeBaun, Michael R.; DeMaso, David R.; Denison, Mark R.; Dent, Arlene E.; Desnick, Robert J.; deVeber, Gabrielle A.; Dhawan, Anil; Dick, André A.S.; Dickey, Brianne Z.; Dietz, Harry C., III; Donoghue, Lydia J.; Donohoue, Patricia A.; Donovan, Mary K.; Dormans, John P.; Dougherty, Kelly A.; Doyle, Alexander; Doyle, Daniel A.; Doyle, Jefferson J.; Drayna, Patrick C.; Dreskin, Stephen C.; Drolet, Beth A.; Dror, Yigal; Dubowitz, Howard; Dumler, J. Stephen; Duncan, Aubrey N.; Duncan, Janet; Duncan, Paula M.; Dvergsten, Jeffrey A.; Earing, Michael G.; Eberly, Matthew D.; Edgerton, Elizabeth A.; Egan, Marie E.; Elder, Jack S.; Elfenbein, Dianne S.; Eppes, Stephen C.; Ericson, Jessica; Fasano, Alessio; Feigelman, Susan; Felice, Marianne E.; Felner, Eric I.; Fels, Edward C.; Felsch, Kora N.; Ferkol, Thomas W., Jr.; Ficicioglu, Can H.; Finder, Jonathan D.; Fiorino, Kristin N.; Fischer, Philip R.; Flood, Veronica H.; Flynn, Patricia M.; Forman, Joel A.; Frank, Michael M.; Freedman, Melvin H.; Freeman, Megan Culler; Frei-Jones, Melissa J.; Friedman, Deborah M.; Friehling, Erika; Frush, Donald P.; Gaensbauer, James T.; Gahagan, Sheila; Gahl, William A.; Galbraith, Sheila S.; Gallentine, William B.; Gardiner, Paula M.; Garibaldi, Luigi R.; Gauthier, Gregory M.; Gibson, K. Michael; Gibson, Mark; Gigliotti, Francis; Gilliam, Walter S.; Ginde, Salil; Ginsburg, Charles M.; Girotto, John A.; Giulino-Roth, Lisa; Glascoe, Frances Page; Goodman, Denise M.; Gopnik, Alison; Gordon, Leslie B.; Gorelick, Marc H.; Gould, Jane M.; Goulet, Olivier; Green, Deanna M.; Green, Michael; Green, Thomas P.; Greenbaum, Larry A.; Griffiths, Anne G.; Grimes, Allison; Grindler, Natalia M.; Grizzle, Kenneth L.; Groleau, Veronique; Grossman, Andrew B.; Grossman, David C.; Guarino, Alfredo; Gurion, Reut; Hackney, Lisa R.; Haddad, Gabriel G.; Haddad, Joseph, Jr.; Hagan, Joseph F., Jr.; Halstead, Scott B.; Hammerschlag, Margaret R.; Hamvas, Aaron; Hani, Abeer J.; Harris, James C.; Hartman, Mary E.; Haslam, David B.; Abdel-Kader, H. Hesham; Hatzenbuehler, Lindsay A.; Hauck, Fern R.; Havers, Fiona P.; Hecht, Jacqueline T.; Heidemann, Sabrina M.; Hendley, J. Owen; Henretig, Frederick M.; Heresi, Gloria P.; Hershey, Andrew D.; Herzog, Cynthia E.; Hochberg, Jessica; Hoefgen, Holly R.; Holinger, Lauren D.; Holland-Hall, Cynthia; Hord, Jeffrey D.; Horn, B. David; Horstmann, Helen M.; Horton, William A.; Hotez, Peter J.; Hsu, Evelyn; Huang, Stephen A.; Huddleston, Heather G.; Huff, Vicki; Hug, Denise; Hughes, Dennis P.M.; Huh, Winston W.; Humphrey, Stephen R.; Hunstad, David A.; Hunt, Carl E.; Hunter, Anna K.; Huppert, Stacey S.; Ibeziako, Patricia I.; Ibrahim, Samar H.; Jacobs, Richard F.; Jatlaoui, Tara; Jensen, M. Kyle; Jenson, Hal B.; John, Chandy C.; John, Collin C.; Johnston, Michael V.; Johnston, Richard B., Jr.; Jones, Bridgette L.; Jones, James F.; Joselow, Marsha; Jospe, Nicholas; Joyce, Joel C.; Juern, Anna M.; Kabbouche, Marielle A.; Kaljee, Linda; Kamat, Deepak; Kansra, Alvina R.; Kaplan, Sheldon L.; Karlin, Aaron M.; Kastner, Daniel L.; Katz, Emily R.; Kazura, James W.; Keane, Virginia A.; Kearns, Gregory L.; Keesecker, Sarah E.; Kelly, Desmond P.; Kelly, Kevin J.; Kelly, Matthew S.; Kelsen, Judith R.; Kemper, Kathi J.; Kennedy, Melissa; Kerem, Eitan; Kerschner, Joseph E.; Khan, Seema; Kim, Jennifer S.; King, Charles H.; Kinsman, Stephen L.; Kirton, Adam; Kishnani, Priya S.; Kitts, Robert L.; Kleiman, Martin B.; Klein, Bruce L.; Klein, Bruce S.; Klein, Michael D.; Kliegman, Robert M.; Koch, William C.; Kochanek, Patrick M.; Kodish, Eric; Kohlhoff, Stephan A.; Kostic, Mark A.; Krach, Linda E.; Krane, Elliot J.; Krause, Peter J.; Kreipe, Richard E.; Krug, Steven E.; Kuttesch, John F., Jr.; Kwon, Jennifer M.; Lachenauer, Catherine S.; Ladisch, Stephan; LaFranchi, Stephen H.; Lakser, Oren J.; Lande, Marc B.; Landrigan, Philip J.; Landry, Gregory L.; Lane, Wendy G.; LaRussa, Phillip S.; Lawrence, J. Todd R.; Lee, Brendan; Lee, K. Jane; Leeder, J. Steven; Lehman, Rebecca K.; Lentze, Michael J.; Lerner, Norma B.; Lestrud, Steven O.; Leung, Donald Y.M.; Liacouras, Chris A.; Liebig, Christopher W.; Lindquist, Timothy P.; Liu, Andrew H.; Lo, Stanley F.; Locatelli, Franco; Lockhart, John H.; Long, Sarah S.; Lopez, Anna Lena; Lossef, Steven V.; Lowry, Jennifer A.; MacZura, Nora T.; Mahajan, Prashant V.; Maheshwari, Akhil; Majzoub, Joseph A.; Maqbool, Asim; Maranich, Ashley M.; Marin, Mona; Marini, Joan C.; Markello, Thomas C.; Markowitz, Morri; Marks, Kevin P.; Maroushek, Stacene R.; Martin, Kari L.; Mason, Wilbert H., Jr.; Mastropietro, Christopher; Matalon, Kimberlee M.; Matalon, Reuben K.; Mathew, Roshni; Matthews, Dennis J.; Mazor, Robert L.; McCabe, Megan E.; McColley, Susanna A.; McGovern, Margaret M.; McLean, Heather S.; McLeod, Rima; McMahon, Mary A.; Mejias, Asuncion; Melby, Peter C.; Menchise, Alexandra N.; Merritt, Diane F.; Mezoff, Ethan A.; Michaels, Marian G.; Mikati, Mohamad A.; Milgrom, Henry; Miller, E. Kathryn; Mink, Jonathan W.; Mistovich, R. Justin; Mitchell, Grant A.; Morgan-DeWitt, Esi; Moscicki, Anna-Barbara; Moseley, Lovern R.; Moughan, Beth; Murphy, James R.; Murphy, Kevin P.; Murphy, Timothy F.; Murray, Thomas S.; Myers, René P.; Natale, Mindo J.; Neal, William A.; Nelson, Maureen R.; Ness, Jayne M.; Neville, Kathleen A.; Nevin, Mary A.; Newburger, Jane W.; Newburger, Peter E.; Nield, Linda S.; Niermeyer, Susan; Noah, Zehava L.; Nogee, Lawrence M.; Norris, Robert L.; Nowak-Węgrzyn, Anna; Obaro, Stephen K.; Obeid, Makram M.; O'Brien, Hope L.; Ochoa, Theresa J.; Ohls, Robin K.; Okwo-Bele, Jean-Marie; Oldham, Keith T.; Oleszek, Joyce L.; Olitsky, Scott E.; Olsson, John M.; Ombrello, Amanda K.; Orenstein, Susan R.; Orenstein, Walter A.; Osorio, Marisa; O'Toole, Patrick; Owens, Judith A.; Özen, Seza; Packman, Charles H.; Pais, Priya; Palermo, Tonya M.; Pan, Cynthia G.; Pappas, Diane E.; Parks, Elizabeth P.; Parks, John S.; Patterson, Maria Jevitz; Peters, Timothy R.; Pickering, Larry K.; Pless, Misha L.; Plummer, Laura S.; Pollard, Andrew J.; Porter, Craig C.; Preciado, Diego; Price, David T.; Prober, Charles G.; Pruitt, David W.; Quan, Linda; Quint, Elisabeth H.; Rabinovich, C. Egla; Raffini, Leslie J.; Ramilo, Octavio; Ramirez-Montealegre, Denia; Rashid, Asma; Raviola, Giuseppe J.; Raymond, Gerald V.; Reed, Ann M.; Rekate, Harold L.; Reller, Megan E.; Reyes, Jorges D.; Rezvani, Geoffrey A.; Rezvani, Iraj; Ritchey, A. Kim; Rivara, Frederick P.; Robilotti, Elizabeth V.; Robinson, Angela Byun; Roosevelt, Genie E.; Rosenberg, David R.; Rosenblatt, David S.; Roskind, Cindy Ganis; Ross, A. Catharine; Rotar, Mary M.; Rozenfeld, Ranna A.; Ryan, Colleen A.; Sachdev, H.P.S.; Sachdeva, Ramesh C.; Sadarangani, Manish; Sadun, Rebecca E.; Sahin, Mustafa; Salata, Robert A.; Salerno, Denise A.; Salvana, Edsel Maurice T.; Sampson, Hugh A.; Sandora, Thomas J.; Sandritter, Tracy L.; Sankar, Wudbhav N.; Sarkissian, Eric J.; Sarnaik, Ajit A.; Sarnaik, Ashok P.; Sarnat, Harvey B.; Sarwal, Minnie M.; Schanberg, Laura E.; Schleiss, Mark R.; Schor, Nina F.; Schroeder, Bill J.; Schroeder, James W., Jr.; Schuster, Mark A.; Schutze, Gordon E.; Scott, Daryl A.; Scott, J. Paul; Seed, Patrick C.; Segel, George B.; Seidman, Ernest G.; Serwint, Janet R.; Shah, Dheeraj; Shaikhkhalil, Ala; Shamir, Raanan; Shane, Andi L.; Shapiro, Bruce K.; Shaw, Amanda N.; Shaywitz, Bennett A.; Shaywitz, Sally E.; Sherman, Philip M.; Shneider, Benjamin L.; Shulman, Stanford T.; Sicherer, Scott H.; Sills, Richard; Simms, Mark D.; Simões, Eric A.F.; Simonsen, Kari A.; Slavotinek, Anne; Slovis, Thomas L.; Smith, P. Brian; Son, Mary Beth F.; Sosinsky, Laura Stout; Spahn, Joseph D.; Spalter, Rivkie; Sperling, Mark A.; Spicer, Robert L.; Spiegel, David A.; Spoudeas, Helen; Spranger, Jürgen W.; Squires, James E.; Sreedharan, Rajasree; Sreedharan, Raman; Srinivas, Nivedita; Stager, Margaret M.; Stahl, Erin D.; Stallings, Amy P.; Stallings, Virginia A.; Stambough, Kathryn C.; Stanberry, Lawrence R.; Stanley, Charles A.; Stanton, Bonita F.; Starke, Jeffrey R.; Stechenberg, Barbara W.; Steinbach, William J.; Stewart, Janet; Stoll, Barbara J.; Storch, Gregory A.; Strauss, Ronald G.; Sucato, Gina S.; Suchy, Frederick J.; Svoren, Britta M.; Swanson, Stephen J.; Szilagyi, Moira; Tan, Libo; Tanz, Robert R.; Tarek, Nidale; Tifft, Cynthia J.; Tinanoff, Norman; Todd, James K.; Tompkins, Lucy S.; Tower, Richard L., II; Trieu, Michael L.; Troncone, Riccardo; Tubergen, David G.; Turk, Margaret A.; Turner, David A.; Ullrich, Christina; Urion, David K.; Vanderbilt, Douglas; Vanderhoof, Jon A.; Van, George F.; van Ingen, Jakko; Van, Heather A.; van Soolingen, Dick; VanTubbergen, Christine; Van, Scott K.; Velardi, Andrea; Vichinsky, Elliott P.; Vickery, Brian P.; Vitola, Bernadette E.; Voynow, Judith A.; Waggoner-Fountain, Linda A.; Waguespack, Steven G.; Walker, David M.; Walkovich, Kelly J.; Wallihan, Rebecca; Walter, Heather J.; Wang, Julie; Ware, Stephanie M.; Weese-Mayer, Debra E.; Weinberg, Jason B.; Weise, Kathryn L.; Weiss, Pamela F.; Weisse, Martin E.; Wells, Lawrence; Wen, Jessica W.; Wendel, Danielle; Werlin, Steven L.; Wessels, Michael R.; Wetmore, Ralph F.; Wetzel, Randall C.; Wexler, Isaiah D.; Wharff, Elizabeth A.; White, A. Clinton, Jr.; White, Perrin C.; Williams, John V.; Willoughby, Rodney E., Jr.; Wilschanski, Michael; Wilson, Pamela; Wilson, Samantha L.; Winell, Jennifer J.; Winnie, Glenna B.; Winter, Harland S.; Wise, Paul H.; Wolf, Joshua; Wolfe, Joanne; Wood, James B.; Worth, Laura L.; Wright, Joseph L.; Wright, Terry W.; Wu, Eveline Y.; Yagupsky, Pablo; Yaron, Michael; Yogev, Ram; Yu, JiaDe; Yudkoff, Marc; Zage, Peter E.; Zakhour, Ramia; Zeltzer, Lonnie K.; Zimmer, Klaus-Peter; Zoran, Naama; Zuckerman, Barry S.
In Nelson Textbook of Pediatrics Edition: Twentieth Edition. 2016:vi-xxxv
Academic Journal
Kanca, Oguz; Andrews, Jonathan C.; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R.; Slavotinek, Anne M.; Cohen, Julie S.; Gubbels, Cynthia S.; Aldinger, Kimberly A.; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W.; Agrawal, Pankaj B.; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C. Christopher; Chung, Wendy K.; Markello, Thomas C.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Academic Journal
Nicoli, Elena-Raluca; Weston, Mary R.; Hackbarth, Mary; Becerril, Alissa; Larson, Austin; Zein, Wadih M.; Baker II, Peter R.; Burke, John Douglas; Dorward, Heidi; Davids, Mariska; Huang, Yan; Adams, David R.; Zerfas, Patricia M.; Chen, Dong; Markello, Thomas C.; Toro, Camilo; Wood, Tim; Elliott, Gene; Vu, Mylinh; Zheng, Wei
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American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2768-2776, 9p
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Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; Makhseed, Nawal; Garnica, Adolfo; Danylchuk, Noelle R.
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Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U.; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Bostwick, Bret L.; Burrage, Lindsay C.; Chen, Shan; Clark, Gary D.; Craigen, William J.; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orange, Jordan S.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Bellen, Hugo J.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Muzny, Donna M.; Ward, Patricia A.; Yang, Yaping; Goldstein, David B.; Stong, Nicholas; Cope, Heidi; Jiang, Yong-hui; McConkie-Rosell, Allyn; Pena, Loren DM.; Schoch, Kelly; Shashi, Vandana; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.G.; Walley, Nicole M.; Aaron, Aday; Beggs, Alan H.; Briere, Lauren C.; Cooper, Cynthia M.; Donnell-Fink, Laurel A.; High, Francis; Korrick, Susan; Krieg, Elizabeth L.; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Glanton, Emily; Holm, Ingrid A.; Kohane, Isaac S.; McCray, Alexa T.; Might, Matthew; LeBlanc, Kimberly; Bick, David P.; Birch, Camille L.; Boone, Braden E.; Brown, Donna M.; Dorset, Daniel C.; Handley, Lori H.; Jones, Angela L.; Lazar, Jozef; Levy, Shawn E.; May, Thomas; Newberry, J. Scott; Schroeder, Molly C.; Worthey, Elizabeth A.; Batzli, Gabriel F.; Dayal, Jyoti G.; Eckstein, David J.; Gould, Sarah E.; Howerton, Ellen M.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; Urv, Tiina K.; Wise, Anastasia L.; Brush, Matthew; Gourdine, Jean-Philippe F.; Haendel, Melissa; Koeller, David M.; Kyle, Jennifer E.; Metz, Thomas O.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Ashley, Euan A.; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Davidson, Jean M.; Dries, Annika M.; Enns, Gregory M.; Fernandez, Liliana; Fisher, Paul G.; Friedman, Noah D.; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Majcherska, Marta M.; Marwaha, Shruti; McCormack, Colleen E.; Merker, Jason D.; Reuter, Chloe M.; Sampson, Jacinda B.; Smith, Kevin S.; Waggott, Daryl M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Allard, Patrick; Barseghyan, Hayk; Butte, Manish J.; DellʼAngelica, Esteban C.; Dipple, Katrina M.; Dorrani, Naghmeh; Douine, Emilie D.; Eskin, Ascia; Fogel, Brent L.; Herzog, Matthew R.; Lee, Hane; Loo, Sandra K.; Martin, Martin G.; Martínez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Behnam, Babak; Burke, Elizabeth A.; DʼSouza, Precilla; Davids, Mariska; Draper, David D.; Estwick, Tyra; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Johnston, Jean M.; Lau, C. Christopher; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Morimoto, Marie; Murphy, Jennifer L.; Nehrebecky, Michele E.; Novacic, Donna; Pusey, Barbara N.; Sharma, Prashant; Toro, Camilo; Valivullah, Zaheer M.; Wahl, Colleen E.; Yu, Guoyun; Gropman, Andrea L.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Postlethwait, John H.; Westerfield, Monte; Bican, Anna; Hamid, Rizwan; Newman, John H.; Phillips, John A., III; Robertson, Amy K.; Cogan, Joy D.
Neurology: Genetics. Aug 01, 2018 4(4)
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Holt, James M.; Wilk, Brandon; Birch, Camille L.; Brown, Donna M.; Gajapathy, Manavalan; Moss, Alexander C.; Sosonkina, Nadiya; Wilk, Melissa A.; Anderson, Julie A.; Harris, Jeremy M.; Kelly, Jacob M.; Shaterferdosian, Fariba; Uno-Antonison, Angelina E.; Weborg, Arthur; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Allard, Patrick; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Batzli, Gabriel F.; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Berg-Rood, Beverly; Bernier, Raphael; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brokamp, Elly; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jiang, Yong-hui; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan
BMC Bioinformatics. October 15, 2019, Vol. 20 Issue 1
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