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收藏Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Batkovskyte, Dominyka; McKenzie, Fiona; Taylan, Fulya; Simsek-Kiper, Pelin Ozlem; Nikkel, Sarah M.; Ohashi, Hirofumi; Stevenson, Roger E.; Ha, Thuong; Cavalcanti, Denise P.; Miyahara, Hiroyuki; Skinner, Steven A.; Aguirre, Miguel A.; Akcoeren, Zuehal; Utine, Gulen Eda; Chiu, Tillie; Shimizu, Kenji; Hammarsjoe, Anna; Boduroglu, Koray; Moore, Hannah W.; Louie, Raymond J.; Arts, Peer; Merrihew, Allie N.; Babic, Milena; Jackson, Matilda R.; Papadogiannakis, Nikos; Lindstrand, Anna; Nordgren, Ann; Barnett, Christopher P.; Scott, Hamish S.; Chagin, Andrei S.; Nishimura, Gen; Grigelioniene, Giedre
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收藏Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome
Chen, Yin-Huai; Grigelioniene, Giedre; Newton, Phillip T.; Gullander, Jacob; Elfving, Maria; Hammarsjo, Anna; Batkovskyte, Dominyka; Alsaif, Hessa S.; Kurdi, Wesam I. Y.; Abdulwahab, Firdous; Shanmugasundaram, Veerabahu; Devey, Luke; Bacrot, Severine; Brodszki, Jana; Huber, Celine; Hamel, Ben; Gisselsson, David; Papadogiannakis, Nikos; Jedrycha, Katarina; Gurtl-Lackner, Barbara; Chagin, Andrei S.; Nishimura, Gen; Aschenbrenner, Dominik; Alkuraya, Fowzan S.; Laurence, Arian; Cormier-Daire, Valerie; Uhlig, Holm H.
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收藏Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Debora Romeo; Astrom, Eva; Svensson, Johan; Yamamoto, Guilherme Lopes; Hammarsjo, Anna; Horemuzova, Eva; Papadiogannakis, Nikos; Iwarsson, Erik; Grigelioniene, Giedre; Tham, Emma
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收藏A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham, Emma; Eklund, Erik A.; Hammarsjo, Anna; Bengtson, Per; Geiberger, Stefan; Lagerstedt-Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Grigelionis, Gintautas; Conner, Peter; Lindgren, Peter; Lindstrand, Anna; Wedell, Anna; Albage, Margareta; Zielinska, Katarzyna; Nordgren, Ann; Papadogiannakis, Nikos; Nishimura, Gen; Grigelioniene, Giedre
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