المؤلفون: Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Rosenfeld, Jill A., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Lewis, Richard A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito

المصدر: The American Journal of Human Genetics ; volume 111, issue 6, page 1239 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.04.022
https://api.elsevier.com/content/article/PII:S0002929724001630?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724001630?httpAccept=text/plain

المؤلفون: Del Viso, Florencia, Zhou, Dihong, Starling, Susan, Fleming, Emily, Saunders, Carol

المصدر: Am J Med Genet A ; ISSN:1552-4833 ; Volume:197 ; Issue:2

مصطلحات موضوعية: SF3B2, Hirschsprung disease, congenital heart defect, craniofacial microsomia, spliceosomopathy, whole exome sequencing

Relation: https://doi.org/10.1002/ajmg.a.63886; https://pubmed.ncbi.nlm.nih.gov/39305124

الاتاحة: https://doi.org/10.1002/ajmg.a.63886
https://pubmed.ncbi.nlm.nih.gov/39305124

المؤلفون: Gandhi, Anusha, Zhou, Dihong, Alaimo, Joseph, Chon, Edwin, Fountain, Michael D., Elsea, Sarah H. (ORCID 0000-0002-1400-8519)

المصدر: Journal of Autism and Developmental Disorders. Jun 2021 51(6):1852-1865.

Peer Reviewed: Y

Page Count: 14

Descriptors: Sleep, Behavior Problems, Genetic Disorders, Neurological Impairments, Developmental Disabilities, Children, Pervasive Developmental Disorders, Symptoms (Individual Disorders)

المؤلفون: Niggl, Eva, Bouman, Arjan, Briere, Lauren C., Hoogenboezem, Remco M., Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D.R.O., Elgersma, Minetta, Bain, Jennifer, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J., Bertrand, Miriam, Blesson, Alyssa E., Clayton-Smith, Jill, Ellingford, Jamie M., Gillentine, Madelyn A., Goodloe, Dana H., Haack, Tobias B., Jain, Mahim, Krantz, Ian, Luu, Sharon M., McPheron, Molly, Muss, Candace L., Raible, Sarah E., Robin, Nathaniel H., Spiller, Michael, Starling, Susan, Sweetser, David A., Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, van Esbroeck, Annelot C.M.

المصدر: Niggl , E , Bouman , A , Genomics England Research Consortium , Undiagnosed Diseases Network , Briere , L C , Hoogenboezem , R M , Wallaard , I , Park , J , Admard , J , Wilke , M , Harris-Mostert , E D R O , Elgersma , M , Bain , J , Balasubramanian , M , Banka , S , Benke , P J , Bertrand , M , Blesson , A E , Clayton-Smith , J , Ellingford , J M , Gillentine , M A , Goodloe , D H , ....

الاتاحة: https://pure.eur.nl/en/publications/4b543d85-000c-4d34-85ce-d749a5354cf8
https://doi.org/10.1016/j.ajhg.2023.07.005
http://www.scopus.com/inward/record.url?scp=85166598997&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432175/pdf/main.pdf

المؤلفون: Calame, Daniel G, Moreno Vadillo, Cristina, Berger, Seth, Lotze, Timothy, Shinawi, Marwan, Poupak, Javaher, Heller, Corina, Cohen, Julie, Person, Richard, Telegrafi, Aida, Phitsanuwong, Chalongchai, Fiala, Kaylene, Thiffault, Isabelle, Del Viso, Florencia, Zhou, Dihong, Fleming, Emily A, Pastinen, Tomi, Fatemi, Ali, Thomas, Sruthi, Pascual, Samuel I, Torres, Rosa J, Prior, Carmen, Gómez-González, Clara, Biskup, Saskia, Lupski, James R, Maric, Dragan, Holmgren, Miguel, Regier, Debra, Yano, Sho T

المساهمون: NIH Brain Disorders, US National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke, NIH Intramural Research Program

المصدر: Brain ; volume 146, issue 8, page 3162-3171 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awad124
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad124/50411860/awad124.pdf
https://academic.oup.com/brain/article-pdf/146/8/3162/51018447/awad124.pdf

المؤلفون: 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

المصدر: Genetics in Medicine ; volume 25, issue 5, page 100020 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.100020
https://api.elsevier.com/content/article/PII:S1098360023000266?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023000266?httpAccept=text/plain

المؤلفون: Thiffault, Isabelle, Alaimo, Joseph, Paolillo, Vitoria, Del Viso, Florencia, Cohen, Ana, Farrow, Emily, Starling, Susan, Humphrey, Maggie, Schwager, Caitlin, Bartik, Lauren, Engleman, Kendra, Cross, Laura, Welsh, Holly, Rush, Eric, Amudhavalli, Shivarajan, Sullivan, Bonnie, Zhou, Dihong, Shaffer, Elizabeth, Baig, Waseem, Zellmer, Lee, Rindler, Mary, Zion, Tricia, Boillat, Emelia, Pastinen, Tomi, Saunders, Carol

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100618 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100618
https://api.elsevier.com/content/article/PII:S2949774423006180?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423006180?httpAccept=text/plain

المؤلفون: Del Viso, Florencia, Zhou, Dihong, Starling, Susan, Fleming, Emily, Saunders, Carol

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100495 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100495
https://api.elsevier.com/content/article/PII:S2949774423004958?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423004958?httpAccept=text/plain

المؤلفون: Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

المصدر: Genetics in Medicine ; volume 24, issue 3, page 631-644 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.10.014
https://api.elsevier.com/content/article/PII:S1098360021053661?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021053661?httpAccept=text/plain

المؤلفون: Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco

المصدر: Radio , F C , Pang , K , Ciolfi , A , Levy , M A , Hernández-García , A , Pedace , L , Pantaleoni , F , Liu , Z , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A , Au ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184
https://doi.org/10.1016/j.ajhg.2021.01.015
https://pure.eur.nl/ws/files/53889029/SPEN_haploinsufficiency_causes_a_neurodevelopmental_disorder_overlapping_proximal_1p36_deletion_syndrome_with_an_episignature_of_X_chromosomes_in_females.pdf
http://www.scopus.com/inward/record.url?scp=85101770406&partnerID=8YFLogxK

المؤلفون: Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B.

المصدر: Genetics in Medicine ; volume 23, issue 10, page 1952-1960 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01212-y
https://www.nature.com/articles/s41436-021-01212-y.pdf
https://www.nature.com/articles/s41436-021-01212-y
https://api.elsevier.com/content/article/PII:S1098360021051261?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051261?httpAccept=text/plain

المؤلفون: Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B.

المصدر: Genetics in Medicine ; volume 23, issue 10, page 2013 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-021-01279-7
https://www.nature.com/articles/s41436-021-01279-7.pdf
https://www.nature.com/articles/s41436-021-01279-7
https://api.elsevier.com/content/article/PII:S1098360021051509?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051509?httpAccept=text/plain

المؤلفون: Pace, Raffaella De, Maroofian, Reza, Paimboeuf, Adeline, Zamani, Mina, Zaki, Maha S, Sadeghian, Saeid, Azizimalamiri, Reza, Galehdari, Hamid, Zeighami, Jawaher, Williamson, Chad D, Fleming, Emily, Zhou, Dihong, Gannon, Jennifer L, Thiffault, Isabelle, Roze, Emmanuel, Suri, Mohnish, Zifarelli, Giovanni, Bauer, Peter, Houlden, Henry, Severino, Mariasavina

المصدر: Brain: A Journal of Neurology; May2024, Vol. 147 Issue 5, p1751-1767, 17p

مصطلحات موضوعية: NEURODEGENERATION, SPASTICITY, GENETIC variation, CENTRAL nervous system, SIZE of brain, FAMILIAL spastic paraplegia

المؤلفون: Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A., Agre, Katherine E., Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L., Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A., Wagner, Monisa D., Hale, Rebecca J., Esber, Natacha, Riley, Alan F., Solomon, Benjamin D., Cho, Megan T., McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K., Mendelsohn, Bryce A., Porter, Hillary M., Lanpher, Brendan C., Lewis, Andrea M., Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M., Yang, Xiang-Jiao

المصدر: SCIENCE ADVANCES ; ISSN: 2375-2548

مصطلحات موضوعية: Medicine and Health Sciences, REGULATOR BRPF1, HBO1 ACETYLTRANSFERASE, MUTATIONS, GENE, ACETYLATION, RECOGNITION, EXPRESSION, GENOME, H3K14, KAT6B

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8667623; http://hdl.handle.net/1854/LU-8667623; http://dx.doi.org/10.1126/sciadv.aax0021; https://biblio.ugent.be/publication/8667623/file/8667625

الاتاحة: https://biblio.ugent.be/publication/8667623
http://hdl.handle.net/1854/LU-8667623
https://doi.org/10.1126/sciadv.aax0021
https://biblio.ugent.be/publication/8667623/file/8667625

المؤلفون: Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya

المساهمون: ZonMw, National Institutes of Health

المصدر: The American Journal of Human Genetics ; volume 107, issue 6, page 1096-1112 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.11.003
https://api.elsevier.com/content/article/PII:S0002929720304006?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720304006?httpAccept=text/plain

المؤلفون: De Pace, Raffaella, Maroofian, Reza, Paimboeuf, Adeline, Zamani, Mina, Zaki, Maha S, Sadeghian, Saeid, Azizimalamiri, Reza, Galehdari, Hamid, Zeighami, Jawaher, Williamson, Chad D, Fleming, Emily, Zhou, Dihong, Gannon, Jennifer L, Thiffault, Isabelle, Roze, Emmanuel, Suri, Mohnish, Zifarelli, Giovanni, Bauer, Peter, Houlden, Henry, Severino, Mariasavina, Patten, Shunmoogum A, Farrow, Emily, Bonifacino, Juan S

المصدر: Brain , 147 (4) , Article awad427. (2023)

مصطلحات موضوعية: congenital, neurodevelopment, chromatin, neurosurgery, genetics, genomics

Relation: https://discovery.ucl.ac.uk/id/eprint/10184738/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10184738/

المؤلفون: Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E., Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faltera, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G., Thorstensen, Wenche M.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/144109/1/von%2Bder%2BLippe_et_al_2021_ZBTB7A_R_AJMG.pdf; Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B. https://orca.cardiff.ac.uk/view/cardiffauthors/A4608133.html, Sansbury, Francis H. https://orca.cardiff.ac.uk/view/cardiffauthors/A2408671B.html, Baptista, Júlia, Fry, Andrew E. https://orca.cardiff.ac.uk/view/cardiffauthors/A126971M.html orcid:0000-0001-9778-6924 orcid:0000-0001-9778-6924, Lim, Derek, Jolles, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A076912M.html, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faltera, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G. and Thorstensen, Wenche M. 2022. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics Part A 188 (1) , pp. 272-282. 10.1002/ajmg.a.62492 https://doi.org/10.1002/ajmg.a.62492 file https://orca.cardiff.ac.uk/id/eprint/144109/1/von%2Bder%2BLippe_et_al_2021_ZBTB7A_R_AJMG.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/144109/
https://doi.org/10.1002/ajmg.a.62492
https://orca.cardiff.ac.uk/id/eprint/144109/1/von%2Bder%2BLippe_et_al_2021_ZBTB7A_R_AJMG.pdf

المؤلفون: Cadieux‐Dion, Maxime, Farrow, Emily, Thiffault, Isabelle, Cohen, Ana S. A., Welsh, Holly, Bartik, Lauren, Schwager, Caitlin, Engleman, Kendra, Zhou, Dihong, Zhang, Lei, Repnikova, Elena, Amudhavalli, Shivarajan M., Saunders, Carol J.

المصدر: Clinical Genetics ; volume 102, issue 2, page 136-141 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14149
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14149
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.14149

المؤلفون: Maher, Maeve C., Nopper, Amy J., Newell, Brandon D., Fleming, Emily, Gannon, Jennifer L., Zhou, Dihong, Horii, Kimberly A.

المصدر: Pediatric Dermatology ; volume 39, issue 4, page 587-589 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/pde.15035
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15035
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/pde.15035

المؤلفون: Del Viso, Florencia, Zhou, Dihong, Thiffault, Isabelle, Lawson, Caitlin, Cross, Laura, Jenkins, Janda, Rush, Eric, Saunders, Carol

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 1, page 259-264 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63006
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63006
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.63006