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

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Growth and Syndromes (to include Turner Syndrome) | 0092 | ESPE2019 | 58th Annual ESPE | ESPE Abstracts

https://abstracts.eurospe.org/hrp/0092/abstracts/free-communications/growth-and-syndromes-to-include-turner-syndrome/
Published:

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NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature | ESPE2019
Lukas Plachy; Lenka Petruzelkova; Veronika Strakova; Lenka Elblova; Petra Kucerova; Barbora Obermannova; Stanislava Kolouskova;
http://abstracts.eurospe.org/hrp/0092/hrp0092FC12.2
Published: 2019-08-22

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NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature | ESPE2019
Lukas Plachy; Lenka Petruzelkova; Veronika Strakova; Lenka Elblova; Petra Kucerova; Barbora Obermannova; Stanislava Kolouskova;
http://abstracts.eurospe.org/hrp/0092/hrp0092fc12.2.html
Published: 2019-08-22

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A Case of Hutchinson-Gilford Progeria Syndrome (HGPS) due to a Pathogenic LMNA Variant c.433G>A (p.Glu145Lys): Growth Hormone Administration Failed to Improve Growth and Long-term Outcome | ESPE2018
Ledjona Toni; Petra Dušatkoa; Dana Novotna; Dana Zemkova; Štěpanka PrUhova; Jan Lebl
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p242.htm
Published: 2018-08-28

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A Homozygous Pathogenic Variant in the TRHR Gene in a Boy Who Presented With Severe Familial Short Stature and Central Hypothyroidism | ESPE2018
Marta Šnajderova; Lukaš Plachy; Veronika Strakova; Lenka Elblova; Petra Dušatkova; Dana Zemkova; Jan Lebl; Štěpanka Pruhova
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p270.htm
Published: 2018-08-28

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The Validation of an Automated Bone Age Assessment in Girls with Turner Syndrome - A Pilot Study | ESPE2018
Ondrej Soucek; Jan Lebl; Klara Maratova; Dana Zemkova; Zdenek Sumnik
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p240.htm
Published: 2018-08-28

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Growth Plate Disorders are the Main Cause of Severe Familiar Short Stature in Children Classified and Treated with Growth Hormone as SGA or GHD | ESPE2018
Lukaš Plachy; Veronika Strakova; Lenka Elblova; Petra Dušatkova; Barbora Obermannova; Marta Šnajderova; Stanislava Kolouškov
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p176.htm
Published: 2018-08-28

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Good Clinical Response to the Growth Hormone Therapy in the Patient with Familiar Short Stature Caused by Novel p.Val478Serfs*14 Mutation in ACAN Gene and Isolated Growth Hormone Deficiency | ESPE2015
Stepanka Pruhova; Lenka Dusatkova; Petra Dusatkova; Dana Zemkova; Jan Lebl
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-80.htm
Published: 2015-08-26

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