المؤلفون: Layo-Carris, Dana E., Lubin, Emily E.^{Aff1, Aff2}, Sangree, Annabel K.^{Aff1, Aff2}, Clark, Kelly J.^{Aff1, Aff2}, Durham, Emily L., Gonzalez, Elizabeth M.^{Aff1, Aff2}, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick^{Aff3, Aff4}, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene^{Aff7, Aff8}, Codina-Solà, Marta^{Aff7, Aff8}, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K.^{Aff18, Aff19}, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane^{Aff23, Aff24}, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A., Vuillaume, Marie-Laure^{Aff3, Aff4, Aff29}, Gueguen, Paul^{Aff3, Aff4, Aff29}, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin^{Aff32, Aff33}, Wallis, Mathew^{Aff34, Aff35}, Gallacher, Lyndon^{Aff32, Aff33}, Majdoub, Fatma^{Aff36, Aff37, Aff38}, Smal, Noor^{Aff36, Aff37}, Weckhuysen, Sarah^{Aff36, Aff37, Aff39, Aff40, Aff41}, Schoonjans, An-Sofie^{Aff39, Aff42}, Kooy, R. Frank, Meuwissen, Marije^{Aff42, Aff43}, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie^{Aff47, Aff52}, L. E. Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K.^{Aff1, Aff2, IDs41431024016101_cor87}, Bryant, Laura M.^{Aff1, Aff56}

المصدر: European Journal of Human Genetics. 32(8):928-937

المؤلفون: Layo-Carris, Dana E., Lubin, Emily E.^{Aff1, Aff2}, Sangree, Annabel K.^{Aff1, Aff2}, Clark, Kelly J.^{Aff1, Aff2}, Durham, Emily L., Gonzalez, Elizabeth M.^{Aff1, Aff2}, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick^{Aff3, Aff4}, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene^{Aff7, Aff8}, Codina-Solà, Marta^{Aff7, Aff8}, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K.^{Aff18, Aff19}, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane^{Aff23, Aff24}, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A., Vuillaume, Marie-Laure^{Aff3, Aff4, Aff29}, Gueguen, Paul^{Aff3, Aff4, Aff29}, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin^{Aff32, Aff33}, Wallis, Mathew^{Aff34, Aff35}, Gallacher, Lyndon^{Aff32, Aff33}, Majdoub, Fatma^{Aff36, Aff37, Aff38}, Smal, Noor^{Aff36, Aff37}, Weckhuysen, Sarah^{Aff36, Aff37, Aff39, Aff40, Aff41}, Schoonjans, An-Sofie^{Aff39, Aff42}, Kooy, R. Frank, Meuwissen, Marije^{Aff42, Aff43}, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie^{Aff47, Aff52}, Guyader, Gwenaël L. E., Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K.^{Aff1, Aff2, IDs4143102401659y_cor87}, Bryant, Laura M.^{Aff1, Aff56}

المصدر: European Journal of Human Genetics. 32(8):1032-1032

المؤلفون: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J

المصدر: American Journal of Medical Genetics Part A. 185(6)

مصطلحات موضوعية: Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann‐, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xp4224d

المؤلفون: Rotenberg, Ohad, Doulaveris, Georgios, Fridman, Dmitry, Renz, Malte, Kaplan, Julie, Xie, Xianhong, Goldberg, Gary L., Dar, Pe'er

المصدر: In Maturitas December 2023 178

المؤلفون: Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., Zweier, Christiane

المصدر: In Genetics in Medicine July 2023 25(7)

المؤلفون: Notten, Geranda^{Aff1, IDs11205021028171_cor1}, Kaplan, Julie

المصدر: Social Indicators Research: An International and Interdisciplinary Journal for Quality-of-Life Measurement. 161(1):251-271

المؤلفون: Boothe, Emily^{Aff1, IDs41372021010701_cor1}, West, Brayden, Hendon, Laura Godfrey^{Aff1, Aff2}, Kaplan, Julie D., Kirmse, Brian

المصدر: Journal of Perinatology. 42(2):262-268

المؤلفون: NOTTEN, GERANDA, KAPLAN, JULIE

المصدر: Canadian Public Policy / Analyse de Politiques, 2021 Mar 01. 47(1), 1-17.

URL الوصول: https://www.jstor.org/stable/27034140

المؤلفون: Averdunk, Luisa^{Aff1, Aff2}, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann-Josef, Koch-Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar^Aff1

المصدر: Journal of Molecular Medicine. 99(12):1755-1768

المؤلفون: Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia^{Aff3, Aff4}, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin^Aff15

المصدر: European Journal of Human Genetics. 29(9):1384-1395