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Showing page 1 of results 1 - 8 of about 8 pages

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RET and TP53 Concomitant Mutations: A Challenging Approach to a Unique Association of High Tumor Predisposing Conditions | ESPE2016
Matilde Calanchini; Andrea Fabbri; Ashley Grossman; Bahram Jafar-Mohammadi
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p41.htm
Published: 2016-08-19

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De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number | ESPE2019
Adalbert Raimann; Julian C Lui; Paul Roschger; Uwe Wintergerst; Klaus Klaushofer; Robert Stelzl; Rainer Biedermann; Franco Lacco
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC15.5
Published: 2019-08-22

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DLG2 Mutations in Patients with Delayed or Absent Puberty | ESPE2019
Youn Hee Jee; Sehoon Won; Julian C. Lui; Melissa Jennings; Philip Whalen; Shanna Yue; Tim Cheetham; Matthew G. Boden; Sally Rado
http://abstracts.eurospe.org/hrp/0092/hrp0092FC15.1
Published: 2019-08-22

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De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number | ESPE2019
Adalbert Raimann; Julian C Lui; Paul Roschger; Uwe Wintergerst; Klaus Klaushofer; Robert Stelzl; Rainer Biedermann; Franco Lacco
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc15.5.html
Published: 2019-08-22

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DLG2 Mutations in Patients with Delayed or Absent Puberty | ESPE2019
Youn Hee Jee; Sehoon Won; Julian C. Lui; Melissa Jennings; Philip Whalen; Shanna Yue; Tim Cheetham; Matthew G. Boden; Sally Rado
http://abstracts.eurospe.org/hrp/0092/hrp0092fc15.1.html
Published: 2019-08-22

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Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum | ESPE2016
Alexandra Gkourogianni; Melissa Andrew; Melissa Crocker; Nancy Dunbar; Alexander Jorge; Stephen Lafranchi; Seema Lalani; Jan Leb
http://abstracts.eurospe.org/hrp/0086/hrp0086fc14.1.htm
Published: 2016-08-19

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Short Stature: Blame the Chondrocyte | ESPE2015
Jeffrey Baron
http://abstracts.eurospe.org/hrp/0084/hrp0084wg1.1.htm
Published: 2015-08-26

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Short Stature, Accelerated Bone Maturation, and Early Growth Cessation due to Heterozygous Aggrecan Mutations | ESPE2014
Ola Nilsson; Michael Guo; Nancy Dunbar; Jadranka Popovic; Daniel Flynn; Christina Jacobsen; Julian Lui; Joel Hirschhorn; Jeffrey
http://abstracts.eurospe.org/hrp/0082/hrp0082fc4.4.htm
Published: 2014-08-28

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