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Published in Diabetes (New York, N.Y.) (01.03.2020)
Published in Diabetes (New York, N.Y.) (01.03.2020)
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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up
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Published in Diabetes care (01.03.2013)
Published in Diabetes care (01.03.2013)
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An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression
Flanagan, Sarah E, Dũng, Vũ Chí, Houghton, Jayne A L, De Franco, Elisa, Ngoc, Can Thi Bich, Damhuis, Annet, Ashcroft, Frances M, Harries, Lorna W, Ellard, Sian
Published in Journal of clinical research in pediatric endocrinology (01.09.2017)
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Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
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Published in Molecular genetics and metabolism (01.03.2017)
Published in Molecular genetics and metabolism (01.03.2017)
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Transient Neonatal Diabetes, ZFP57 , and Hypomethylation of Multiple Imprinted Loci
Boonen, Susanne E., Mackay, Deborah J.G., Hahnemann, Johanne M.D., Docherty, Louise, Grønskov, Karen, Lehmann, Anna, Larsen, Lise G., Haemers, Andreas P., Kockaerts, Yves, Dooms, Lutgarde, Vũ, Dũng Chí, Ngoc, C.T. Bich, Nguyen, Phuong Bich, Kordonouri, Olga, Sundberg, Frida, Dayanikli, Pinar, Puthi, Vijith, Acerini, Carlo, Massoud, Ahmed F., Tümer, Zeynep, Temple, I. Karen
Published in Diabetes care (01.03.2013)
Published in Diabetes care (01.03.2013)
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Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels
Dũng, Vũ Chí, Tomatsu, Shunji, Montaño, Adriana M., Gottesman, Gary, Bober, Michael B., Mackenzie, William, Maeda, Miho, Mitchell, Grant A., Suzuki, Yasuyuki, Orii, Tadao
Published in Molecular genetics and metabolism (01.09.2013)
Published in Molecular genetics and metabolism (01.09.2013)
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
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Published in Genome Biology (29.11.2016)
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Johnston, Jennifer J, van der Smagt, Jasper J, Rosenfeld, Jill A, Pagnamenta, Alistair T, Alswaid, Abdulrahman, Baker, Eva H, Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B, van Gassen, Koen L, Gulsuner, Suleyman, Harr, Margaret H, Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A, McDonald-McGinn, Donna M, Can, Ngoc Thi Bich, Peleg, Amir, Roeder, Elizabeth R, Rogers, R Curtis, Sagi-Dain, Lena, Sapp, Julie C, Schäffer, Alejandro A, Schanze, Denny, Stewart, Helen, Taylor, Jenny C, Verbeek, Nienke E, Walkiewicz, Magdalena A, Zackai, Elaine H, Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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AB020. What is advance in molecular diagnosis for 46,XY and 46,XX testicular disorder of sex development?
Dũng, Vũ Chí, Khánh, Nguyễn Ngọc, Thảo, Bùi Phương, Ngọc, Cấn Thị Bích, Đạt, Nguyễn Phú, Dung, Le Anh, Kon, Masafumi, Igarashi, Maki, Fukami, Maki
Published in Annals of translational medicine (01.09.2015)
Published in Annals of translational medicine (01.09.2015)
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A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia
Vu, Chi Dung, Van Ta, Thanh, Nguyen, Ngoc-Lan, Nguyen, Huy-Hoang, Nguyen, Thi Kim Lien, Tran, Thinh Huy, Tran, Van Khanh
Published in Advances in experimental medicine and biology (01.01.2020)
Published in Advances in experimental medicine and biology (01.01.2020)
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The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey
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We All Have a Role to Play: Redressing Inequities for Children Living with CAH and Other Chronic Health Conditions of Childhood in Resource-Poor Settings
Armstrong, Kate, Benedict Yap, Alain, Chan-Cua, Sioksoan, Craig, Maria, Cole, Catherine, Chi Dung, Vu, Hansen, Joseph, Ibrahim, Mohsina, Nadeem, Hassana, Pulungan, Aman, Raza, Jamal, Utari, Agustini, Ward, Paul
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Published in International journal of neonatal screening (25.09.2020)
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Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development
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Published in PloS one (08.07.2013)
Published in PloS one (08.07.2013)
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Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter, Sinclair, Andrew
Published in Nature communications (14.12.2018)
Published in Nature communications (14.12.2018)
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Enzyme replacement therapy in a murine model of Morquio A syndrome
Tomatsu, Shunji, Montaño, Adriana M., Ohashi, Amiko, Gutierrez, Monica A., Oikawa, Hirotaka, Oguma, Toshihiro, Dung, Vu Chi, Nishioka, Tatsuo, Orii, Tadao, Sly, William S.
Published in Human molecular genetics (15.03.2008)
Published in Human molecular genetics (15.03.2008)
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G
Published in Journal of medical genetics (01.07.2018)
Published in Journal of medical genetics (01.07.2018)
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The diagnosis and management of monogenic diabetes in children and adolescents
Rubio-Cabezas, Oscar, Hattersley, Andrew T, Njølstad, Pål R, Mlynarski, Wojciech, Ellard, Sian, White, Neil, Chi, Dung Vu, Craig, Maria E
Published in Pediatric diabetes (01.09.2014)
Published in Pediatric diabetes (01.09.2014)
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ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents
Greeley, Siri Atma W., Polak, Michel, Njølstad, Pål R., Barbetti, Fabrizio, Williams, Rachel, Castano, Luis, Raile, Klemens, Chi, Dung Vu, Habeb, Abdelhadi, Hattersley, Andrew T., Codner, Ethel
Published in Pediatric diabetes (01.12.2022)
Published in Pediatric diabetes (01.12.2022)
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A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature
Nguyen, Ngoc-Lan, Thi Bich Ngoc, Can, Dung Vu, Chi, Van Tung, Nguyen, Hoang Nguyen, Huy
Published in Clinica chimica acta (01.09.2020)
Published in Clinica chimica acta (01.09.2020)
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