المؤلفون: Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J. M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B. A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T. R. M., Stevens, Servi J. C., Vermeulen, Jeroen R., van Harssel, Jeske V. T., Bosch, Danielle G. M., van Gassen, Koen L., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Ounap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, Maria, Pacio-Miguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tonne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Malgorzata J. M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E. L. M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

المصدر: Rots , D , Chater-Diehl , E , Dingemans , A J M , Goodman , S J , Siu , M T , Cytrynbaum , C , Choufani , S , Hoang , N , Walker , S , Awamleh , Z , Charkow , J , Meyn , S , Pfundt , R , Rinne , T , Gardeitchik , T , de Vries , B B A , Deden , A C , Leenders , E , Kwint , M , Stumpel , C T R M , Stevens , S J C , Vermeulen , ....

مصطلحات موضوعية: AT-HOOK, SOTOS-LIKE, EXON 34, MUTATIONS, GENE, PHENOTYPE, DIAGNOSIS, SPECTRUM, PROTEIN, EPISIGNATURES

الإتاحة: https://doi.org/10.1016Test/j.ajhg.2021.04.008
https://cris.maastrichtuniversity.nl/en/publications/99084a89-ebc9-4e84-8e41-c146b945e160Test

المؤلفون: Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon

المساهمون: National Institutes of Health, NIH Office of the Director

المصدر: Science Advances ; volume 7, issue 20 ; ISSN 2375-2548

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1126/sciadv.abf2066Test

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortes, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernandez-Chico, Concepcion, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J. M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Shahar, Noa Ruhrman, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., van den Ende, Jenneke, Vergano, Samantha A. Schrier, Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

المصدر: 1059-7794 ; Human mutation

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000492598500001

الإتاحة: https://doi.org/10.1002/HUMU.23929Test
https://hdl.handle.net/10067/1646780151162165141Test
https://repository.uantwerpen.be/docman/irua/13fa5b/164678.pdfTest

المؤلفون: Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Pawel, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curro, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandara, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Beneteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Malgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Biology, Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000463167300008

الإتاحة: https://doi.org/10.1038/S41436-018-0266-3Test
https://hdl.handle.net/10067/1550050151162165141Test
https://repository.uantwerpen.be/docman/irua/f82d74/155005.pdfTest

المؤلفون: Jobling, Rebekah, Stavropoulos, Dimitri James, Marshall, Christian R, Cytrynbaum, Cheryl, Axford, Michelle M, Londero, Vanessa, Moalem, Sharon, Orr, Jennifer, Rossignol, Francis, Lopes, Fatima Daniela, Gauthier, Julie, Alos, Nathalie, Rupps, Rosemarie, McKinnon, Margaret, Adam, Shelin, Nowaczyk, Malgorzata J M, Walker, Susan, Scherer, Stephen W, Nassif, Christina, Hamdan, Fadi F, Deal, Cheri L, Soucy, Jean-Francois, Weksberg, Rosanna, Macleod, Patrick, Michaud, Jacques L, Chitayat, David

مصطلحات موضوعية: Phenotypes

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/55/5/316Test; http://dx.doi.org/10.1136/jmedgenet-2017-105222Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-105222Test
http://jmg.bmj.com/cgi/content/short/55/5/316Test

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B M, Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M

المساهمون: Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D, Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic-Vuksanovic, Dusica, Baker, Laura, Basel, Donald G, Bengala, Mario, Bennett, James T, Chambers, Chelsea, Clarkson, Lola K, Clementi, Maurizio, Cortés, Fanny M, Cunningham, Mitch, D'Agostino, M Daniela, Delatycki, Martin B, Digilio, Maria C, Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary-Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S, Griffis, Cristin, Gripp, Karen W, Gupta, Punita, Haan, Eric, Hachen, Rachel K, Haygarth, Tamara L, Hernández-Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J, Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly-Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R, Lewis, Andrea M, Liebelt, Jan, Lichty, Angie, Listernick, Robert H, Lyons, Michael J, Maystadt, Isabelle, Martinez Ojeda, Mayra, Mcdougall, Carey, Mcgregor, Lesley K, Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J M, Ortenberg, June, Panzer, Karin, Pappas, John G, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K, Pond, Dinel A, Powell, Cynthia M, Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S Lane, Saletti, Veronica, Sandaradura, Sarah A, Santoro, Claudia, Schatz, Ulrich A, Schreiber, Allison, Scott, Daryl A, Sellars, Elizabeth A, Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M, Smith, Rosemarie, Spalice, Alberto, Stockton, David W, Streff, Haley, Theos, Amy, Tomlinson, Gail E, Tran, Grace, Trapane, Pamela L, Trevisson, Eva, Ullrich, Nicole J, Van den Ende, Jenneke, Schrier Vergano, Samantha A, Wallace, Stephanie E, Wangler, Michael F, Weaver, David D, Yohay, Kaleb H, Zackai, Elaine, Zonana, Jonathan

مصطلحات موضوعية: NF1, genotype-phenotype correlation, p.Arg1276, p.Lys1423, p.Met1149

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299-315; lastpage:315; journal:HUMAN MUTATION; http://hdl.handle.net/11386/4744736Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550

الإتاحة: https://doi.org/10.1002/humu.23929Test
http://hdl.handle.net/11386/4744736Test

المؤلفون: Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T

المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014)

مصطلحات موضوعية: Abnormalities, Multiple, Female, Gene Order, Genetic Loci, Humans, Male, Mutation, Phenotype, Young Adult, Actins, Adolescent, Adult, Amino Acid Substitution, Child, Preschool, Craniofacial Abnormalities, Facies

العلاقة: boreal:175843; http://hdl.handle.net/2078.1/175843Test; info:pmid/25052316; urn:ISSN:1018-4813; urn:EISSN:1476-5438

الإتاحة: https://doi.org/10.1038/ejhg.2014.95Test
http://hdl.handle.net/2078.1/175843Test

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, Campo, Miguel Del, 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, Knight Johnson, Amy E, 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, Hakonarson, Hakon, Zackai, Elaine H, Quintero-Rivera, Fabiola

المساهمون: 1Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 2Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 3Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA. 4Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. 5Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 6Landspitali University Hospital, Iceland. 7Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA. 8McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. 9Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA. 10Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. 11Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA. 12Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA. 13Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA. 14Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA. 15Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA. 16Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. 17Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA. 18Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA. 19Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA. 20Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. 21Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA. 22Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA. 23Department of Medical Genetics, University of Calgary, Calgary, Canada. 24Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada. 25Department of Clinical Skills, St. George's University, True Blue, Grenada. 26McMaster University, Hamilton, Canada. 27Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. 28Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA. 29Department of Biochemistry, St. George's University, True Blue, Grenada. 30Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA. 31Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA. 32Children's Hospital of Minnesota, Minneapolis, Minnesota, USA. 33Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA. 34Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA. 35Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA. 36Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada. 37Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR. 38Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA. 39UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA. 40Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. 41Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA. 42Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 43Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. 44Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA. 45Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 46Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. 47Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA. 48Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA. 49MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA. 50Phoenix Children's Hospital, Phoenix, Arizona, USA. 51Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA. 52Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. 53Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA. 54Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA. 55Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. 56Department of Paediatrics, University of Melbourne, Melbourne, Australia. 57Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA. 58Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA. 59NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA. 60Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel. 61Genetics Center and CHOC Children's Hospital, Orange, California, USA. 62Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA. 63Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, USA.

المصدر: American journal of medical genetics. Part A ; United States

مصطلحات موضوعية: KMT2A, MLL1, Wiedemann-Steiner syndrome, hypertrichosis, syndromic intellectual disability, syndromic short stature, Fósturgallar

العلاقة: Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Mar 30. doi:10.1002/ajmg.a.62124.; http://hdl.handle.net/2336/621775Test; American journal of medical genetics. Part A

الإتاحة: https://doi.org/10.1002/ajmg.a.62124Test
http://hdl.handle.net/2336/621775Test

المؤلفون: Quintero-Rivera, Fabiola, Eno, Celeste C., Sutanto, Christine, Jones, Kelly L., Nowaczyk, Małgorzata J. M., Wong, Derek, Earl, Dawn, Mirzaa, Ghayda, Beck, Anita, Martinez-Agosto, Julian A.

المساهمون: March of Dimes Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, University of California, Los Angeles

المصدر: Human Genetics ; volume 140, issue 4, page 681-690 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-020-02240-5Test

المؤلفون: Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste

المصدر: European Journal of Human Genetics ; volume 23, issue 3, page 292-301 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.95Test
http://www.nature.com/articles/ejhg201495.pdfTest
http://www.nature.com/articles/ejhg201495Test