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Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome
Lima, A.R., Ferreira, B.M., Zhang, C, Jolly, A., Du, H., White, J.J., Dawood, M., Lins, T.C., Chiabai, M.A., van Beusekom, E., Cordoba, M.S., Caldas Rosa, E.C.C., Kayserili, H., Kimonis, V., Wu, E., Mellado, C., Aggarwal, V., Richieri-Costa, A., Brunoni, D., Canó, T.M., Jorge, A.A.L., Kim, C.A., Honjo, R., Bertola, D.R., Dandalo-Girardi, R.M., Bayram, Y., Gezdirici, A., Yilmaz-Gulec, E., Gumus, E., Yilmaz, G.C., Okamoto, N., Ohashi, H., Coban-Akdemir, Z., Mitani, T., Jhangiani, S.N., Muzny, D.M., Regattieri, N.A.P., Pogue, R., Pereira, R.W., Otto, P.A., Gibbs, R.A., Ali, B.R., van Bokhoven, H., Brunner, H.G., Sutton, V.R., Lupski, J.R., Vianna-Morgante, A.M., Carvalho, C.M., Mazzeu, J.F.
Published in Human Mutation (01.07.2022)
Published in Human Mutation (01.07.2022)
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Journal Article
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism
Oliveira, Flávia Marcorin, Barros, Beatriz Amstalden, Santos, Ana Paula, Campos, Nilma Lúcia Viguetti, Mazzola, Taís Nitsch, Filho, Paulo Latuf, Andrade, Liliana Aparecida Lucci De Angelo, Guaragna, Mara Sanches, Mello, Maricilda Palandi, Guerra‐Junior, Gil, Vieira, Társis Antonio Paiva, Maciel‐Guerra, Andréa Trevas
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
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Journal Article
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Published in Npj genomic medicine (13.01.2016)
Published in Npj genomic medicine (13.01.2016)
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Journal Article
Prenatal exome sequencing in fetuses with callosal anomalies
Lei, Ting‐ying, She, Qin, Fu, Fang, Zhen, Li, Li, Ru, Yu, Qiu‐xia, Wang, Dan, Li, Ying‐si, Cheng, Ken, Zhou, Hang, Yang, Xin, Pan, Min, Li, Dong‐zhi, Liao, Can
Published in Prenatal diagnosis (01.05.2022)
Published in Prenatal diagnosis (01.05.2022)
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Journal Article
Chromosomal Microarray Study in Prader-Willi Syndrome
Butler, Merlin G., Hossain, Waheeda A., Cowen, Neil, Bhatnagar, Anish
Published in International journal of molecular sciences (07.01.2023)
Published in International journal of molecular sciences (07.01.2023)
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Journal Article
Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing
Zhou, Ran, Jiao, Jiao, Wang, Yan, Meng, Lulu, Li, Yiming, Xu, Yiyun, Hu, Ping, Xu, Zhengfeng
Published in Annals of medicine (Helsinki) (12.12.2023)
Published in Annals of medicine (Helsinki) (12.12.2023)
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Journal Article
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
Zhuang, Jianlong, Chen, Chunnuan, Jiang, Yuying, Luo, Qi, Zeng, Shuhong, Lv, Chunling, Wang, Yuanbai, Fu, Wanyu
Published in BMC pregnancy and childbirth (28.01.2021)
Published in BMC pregnancy and childbirth (28.01.2021)
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Journal Article