Search Results - "Chong, Josephine S C"

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders by Cao, Ye, Luk, Ho Ming, Zhang, Yanyan, Chau, Matthew Hoi Kin, Xue, Shuwen, Cheng, Shirley S W, Li, Albert Martin, Chong, Josephine S C, Leung, Tak Yeung, Dong, Zirui, Choy, Kwong Wai, Lo, Ivan Fai Man

“…Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of…”
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Phenotypic Variability of SOCS1 Haploinsufficiency by Hale, Rebecca C., Owen, Nichole, Yuan, Bo, Chinn, Ivan K.

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity by Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

“…CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been…”
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Successful treatment of multiple subdural empyemata caused by Mycoplasma hominis in a newborn by Chong, Josephine S C, Tseung, Simon Y T, Lam, Hugh S, Chu, Winnie C W, Ip, Margaret, Wong, Hoi T, Zhu, Cannon X L, Ng, Pak C

“…We report a case of neonatal subdural empyema caused by Mycoplasma hominis. The infant sustained severe birth-related eye injury and subsequently developed…”
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Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations by Hui, Joanme, Tang, Nelson L.S., Li, C.K., Law, L.K., To, K.F., Yau, Phyllis, Fung, Simon L.M., Chong, Josephine S.C., Tsung, Lilian, Chiang, Grace, Fung, Eva, Cheung, K.L., Yeung, W.L., Fok, T.F.

“…Inherited metabolic diseases (IMDs) are a large group of rare genetic diseases. The spectrum and incidences of IMDs differ among populations, which has been…”
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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 by Ravenscroft, Thomas A., Fieg, Elizabeth, Zirin, Jonathan, Kanca, Oguz, Adam, Margaret, Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Andrews, Ashley, Azamian, Mahshid S., Bademci, Guney, Balasubramanya, Ashok, Behrens, Edward, Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Byers, Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Cobban, Laurel A., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Dai, Hongzheng, Dayal, Jyoti G., Dipple, Katrina, Dorrani, Naghmeh, Draper, David D., Emrick, Lisa T., Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Findley, Laurie C., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kiley, Dana, Krasnewich, Donna M., Lam, Christina, Lee, Hane, MacDowall, John, Majcherska, Marta M., Mak, Bryan C., Mamounas, Laura A., Martínez-Agosto, Julian A., McCauley, Jacob, Mulvihill, John J., Newman, John H., Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Palmer, Christina GS, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Rives, Lynette, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Scott, C. Ron, Schedl, Timothy, Shashi, Vandana, Tan, Queenie K.-G., Toro, Camilo, Viskochil, Dave, Wahl, Colleen E., Wambach, Jennifer, Wang, Lee-kai, Wener, Mark, Perry, Katherine Wesseling, Westerfield, Monte, Whitlock, Jordan, Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zhao, Chunli, Osmond, Matthew, Postlethwait, John H., Krier, Joel, Bellen, Hugo J.

“…Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated…”
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