Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels von Dũng, Vũ Chí, Tomatsu, Shunji, Montaño, Adriana M., Gottesman, Gary, Bober, Michael B., Mackenzie, William, Maeda, Miho, Mitchell, Grant A., Suzuki, Yasuyuki, Orii, Tadao

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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort von Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A, Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M, Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R, Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F, Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F, Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M, Ono, Makato, Lafferty, Antony R, Huynh, Tony, Visser, Uma, Choong, Catherine S, McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M, Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J, Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I, Krausz, Csilla, van Ravenswaaij-Arts, Conny M A, Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, Thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L, Sinclair, Andrew H

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants von 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

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The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease von 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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De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction von De Franco, Elisa, Caswell, Richard, Johnson, Matthew B., Wakeling, Matthew N., Zung, Amnon, Dung, Vu Chi, Bich Ngoc, Can Thi, Goonetilleke, Rajiv, Vivanco Jury, Maritza, El-Khateeb, Mohammed, Ellard, Sian, Flanagan, Sarah E., Ron, David, Hattersley, Andrew T.

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Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 von 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

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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 von 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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Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development von Igarashi, Maki, Dung, Vu Chi, Suzuki, Erina, Ida, Shinobu, Nakacho, Mariko, Nakabayashi, Kazuhiko, Mizuno, Kentaro, Hayashi, Yutaro, Kohri, Kenjiro, Kojima, Yoshiyuki, Ogata, Tsutomu, Fukami, Maki

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The diagnosis and management of monogenic diabetes in children and adolescents von Rubio-Cabezas, Oscar, Hattersley, Andrew T, Njølstad, Pål R, Mlynarski, Wojciech, Ellard, Sian, White, Neil, Chi, Dung Vu, Craig, Maria E

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ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents von 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

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GIFT4Rec: An Effective Side Information Fusion Technique Apply to Graph Neural Network for Cold-Start Recommendation von Nguyen, Tran-Ngoc-Linh, Vu, Chi-Dung, Le, Hoang-Ngan, Hoang, Anh-Dung, Phan, Xuan Hieu, Ha, Quang Thuy, Le, Hoang Quynh, Tran, Mai-Vu

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Enzyme replacement therapy in a murine model of Morquio A syndrome von Tomatsu, Shunji, Montaño, Adriana M., Ohashi, Amiko, Gutierrez, Monica A., Oikawa, Hirotaka, Oguma, Toshihiro, Dung, Vu Chi, Nishioka, Tatsuo, Orii, Tadao, Sly, William S.

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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up von BOONEN, Susanne E, MACKAY, Deborah J. G, CHI VU, Dũng, BICH NGOC, C. T, BICH NGUYEN, Phuong, KORDONOURI, Olga, SUNDBERG, Frida, DAYANIKLI, Pinar, PUTHI, Vijith, ACERINI, Carlo, MASSOUD, Ahmed F, TÜMER, Zeynep, HAHNEMANN, Johanne M. D, KAREN TEMPLE, I, DOCHERTY, Louise, GRØNSKOV, Karen, LEHMANN, Anna, LARSEN, Lise G, HAEMERS, Andreas P, KOCKAERTS, Yves, DOOMS, Lutgarde

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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 von Nguyen, Ngoc-Lan, Thi Bich Ngoc, Can, Dung Vu, Chi, Van Tung, Nguyen, Hoang Nguyen, Huy

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Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn... von Shibata, Naoaki, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Purevsuren, Jamiyan, Yang, Yanling, Dung, Vu Chi, Khanh, Nguyen Ngoc, Verma, Ishwar C., Bijarnia-Mahay, Sunita, Lee, Dong Hwan, Niu, Dau-Ming, Hoffmann, Georg F., Shigematsu, Yosuke, Fukao, Toshiyuki, Fukuda, Seiji, Taketani, Takeshi, Yamaguchi, Seiji

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Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children von Tran, Thi Chi Mai, Tran, Thi Ngoc Anh, Le, Hoang Bich Nga, Nguyen, Viet Hoa, Tran, Minh Dien, Vu, Chi Dung, Greaves, Ronda F.

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Closing the Type 1 Diabetes gap in South-East Asia through government partnership working with non-government organisations von Ng, Sze May, Malene, IV, Nilar, Myint, Rassavong, Khaysy, Dung Vu, Chi, Hui Sieng Tan, Florence, Yazid Jalaludin, Muhammad, Toomey, Charles, Lek, Ngee

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Therapies for the bone in mucopolysaccharidoses von Tomatsu, Shunji, Alméciga-Díaz, Carlos J., Montaño, Adriana M., Yabe, Hiromasa, Tanaka, Akemi, Dung, Vu Chi, Giugliani, Roberto, Kubaski, Francyne, Mason, Robert W., Yasuda, Eriko, Sawamoto, Kazuki, Mackenzie, William, Suzuki, Yasuyuki, Orii, Kenji E., Barrera, Luis A., Sly, William S., Orii, Tadao

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Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants von Duong, Nguyen Thuy, Dinh, Tran Huu, Möhl, Britta S., Hintze, Stefan, Quynh, Do Hai, Ha, Duong Thi Thu, Ngoc, Ngo Diem, Dung, Vu Chi, Miyake, Noriko, Hai, Nong Van, Matsumoto, Naomichi, Meinke, Peter

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An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression von 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

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