未登录 International guideline on genetic testing of children with short stature 关于儿童矮身材遗传检测的国际指南 Dauber, Andrew; Jorge, Alexander A. L.; Nilsson, Ola; Dekkers, Olaf M.; Argente, Jesus; Netchine, Irene; Backeljauw, Philippe; Baron, Jeffrey; Bertola, Debora R.; Clayton, Peter; Davies, Justin H.; Edouard, Thomas; Eggermann, Thomas; Gevers, Evelien F.; Grigelioniene, Giedre; Heath, Karen E.; Jee, Youn Hee; Lapunzina, Pablo; Mortier, Geert R.; Pruhova, Stepanka; Storr, Helen L.; Wakeling, Emma; Ferreira, Carlos R.; Hasegawa, Tomonobu; Hokken-Koelega, Anita C. S.; Linglart, Agnes; Luo, Xiaoping; Wang, Xiumin; Hwa, Vivian; Gregory, Louise C.; Buonocore, Federica; Dattani, Mehul T.; Cianfarani, Stefano; Wit, Jan M. 分享 收藏
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QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction Maharaj, Avinaash V.; Ishida, Miho; Rybak, Anna; Elfeky, Reem; Andrews, Afiya; Joshi, Aakash; Elmslie, Frances; Joensuu, Anni; Kantojarvi, Katri; Jia, Raina Y.; Perry, John R. B.; O'Toole, Edel A.; McGuffin, Liam J.; Hwa, Vivian; Storr, Helen L. 分享 收藏
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Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome V. Maharaj, Avinaash; Cottrell, Emily; Thanasupawat, Thatchawan; Joustra, Sjoerd D.; Triggs-Raine, Barbara; Fujimoto, Masanobu; Kant, Sarina G.; van der Kaay, Danielle; Clement-de Boers, Agnes; Brooks, Alice S.; Aguirre, Gabriel Amador; del Estal, Irene Martin; Larrea, Maria Inmaculada Castilla de Cortazar; Massoud, Ahmed; van Duyvenvoorde, Hermine A.; De Bruin, Christiaan; Hwa, Vivian; Klonisch, Thomas; Hombach-Klonisch, Sabine; Storr, Helen L. 分享 收藏
Single-cell transcriptomics identifies adipose tissue CD271+progenitors for enhanced angiogenesis in limb ischemia Inoue, Oto; Goten, Chiaki; Hashimuko, Daiki; Yamaguchi, Kosei; Takeda, Yusuke; Nomura, Ayano; Ootsuji, Hiroshi; Takashima, Shinichiro; Iino, Kenji; Takemura, Hirofumi; Halurkar, Manasi; Lim, Hee-Woong; Hwa, Vivia; Sanchez-Gurmaches, Joan; Usui, Soichiro; Takamura, Masayuki 分享 收藏
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant Catli, Gonul; Gao, Wen; Foley, Corinne; Ozyilmaz, Berk; Edeer, Neslihan; Diniz, Gulden; Losekoot, Monique; van Doorn, Jaap; Dauber, Andrew; Dundar, Bumin N.; Wit, Jan M.; Hwa, Vivian 分享 收藏
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Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity Cottrell, Emily; Maharaj, Avinaash; Williams, Jack; Chatterjee, Sumana; Cirillo, Grazia; del Giudice, Emanuele Miraglia; Festa, Adalgisa; Palumbo, Stefania; Capalbo, Donatella; Salerno, Mariacarolina; Pignata, Claudio; Savage, Martin O.; Schilbach, Katharina; Bidlingmaier, Martin; Hwa, Vivian; Metherell, Louise A.; Grandone, Anna; Storr, Helen L. 分享 收藏
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Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation Fujimoto, Masanobu; Andrew, Melissa; Liao, Lihong; Zhang, Dongsheng; Yildirim, Gozde; Sluss, Patrick; Kalra, Bhanu; Kumar, Ajay; Yakar, Shoshana; Hwa, Vivian; Dauber, Andrew 分享 收藏
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P.; Jongmans, Marjolijn C. J. 分享 收藏
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions Heyn, Patricia; Logan, Clare V.; Fluteau, Adeline; Challis, Rachel C.; Auchynnikava, Tatsiana; Martin, Carol-Anne; Marsh, Joseph A.; Taglini, Francesca; Kilanowski, Fiona; Parry, David A.; Cormier-Daire, Valerie; Fong, Chin-To; Gibson, Kate; Hwa, Vivian; Ibanez, Lourdes; Robertson, Stephen P.; Sebastiani, Giorgia; Rappsilber, Juri; Allshire, Robin C.; Reijns, Martin A. M.; Dauber, Andrew; Sproul, Duncan; Jackson, Andrew P. 分享 收藏
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation Klammt, Juergen; Neumann, David; Gevers, Evelien F.; Andrew, Shayne F.; Schwartz, I. David; Rockstroh, Denise; Colombo, Roberto; Sanchez, Marco A.; Vokurkova, Doris; Kowalczyk, Julia; Metherell, Louise A.; Rosenfeld, Ron G.; Pfaeffle, Roland; Dattani, Mehul T.; Dauber, Andrew; Hwa, Vivian 分享 收藏
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Cutting edge:: Decreased accumulation and regulatory function of CD4+CD25high T cells in human STAT 5b deficiency Cohen, Aileen C.; Nadeau, Kari C.; Tu, Wenwei; Hwa, Vivian; Dionis, Kira; Bezrodnik, Liliana; Teper, Alejandro; Gaillard, Maria; Heinrich, Juan; Krensky, Alan M.; Rosenfeld, Ron G.; Lewis, David B. 分享 收藏
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