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Showing page 1 of results 1 - 9 of about 9 pages

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Gain of Function STAT3 Mutation in a Boy with Early Onset Autoimmune Diabetes and Thyroid Disease, Prenatal and Postnatal Growth Impairment and Lymphoproliferation | ESPE2015
Hana Sediva; Petra Dusatkova; Lenka Dusatkova; Zdenek Sumnik; Stanislava Kolouskova; Stepanka Pruhova; Jan Lebl
http://abstracts.eurospe.org/hrp/0084/hrp0084fc13.1.htm
Published: 2015-08-26

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Phenotypic Variability of Identical Mutations in the ABCC8 Gene in Two Families | ESPE2016
Klara Rozenkova; Jirina Zapletalova; Lenka Dusatkova; Petra Dusatkova; Barbora Obermannova; Stepanka Pruhova; Jan Lebl; Zdenek S
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p229.htm
Published: 2016-08-19

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Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene | ESPE2016
Lenka Dusatkova; Kristyna Potuznikova; Daniela Zemkova; Ivo Marik; Klara Rozenkova; Jan Lebl; Stepanka Pruhova; Zdenek Sumnik
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p136.htm
Published: 2016-08-19

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Early Successful Hematopoietic Cell Transplantation (HSCT) in a Boy with IPEX Syndrome Caused by Novel C.721T>C FOXP3 Mutation | ESPE2016
Barbora Obermannova; Renata Formankova; Zdenek Sumnik; Lenka Dusatkova; Stepanka Pruhova; Jana Kayserova; Petr Sedlacek; Jan Leb
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc5.7.htm
Published: 2016-08-19

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Hyperglycemia Preceded by Neonatal Hyperinsulinemic Hypoglycemia in Infants with Novel HNF1A Mutations | ESPE2015
Jana Malikova; Barbora Obermannova; Klara Rozenkova; Lenka Dusatkova; Petra Dusatkova; Lise Bjorkhaug; Ingvild Aukrust; Jan Lebl
http://abstracts.eurospe.org/hrp/0084/hrp0084p3-1059.htm
Published: 2015-08-26

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Functional Analysis of Novel ABCC8 Mutations Found in Czech Patients with Congenital Hyperinsulinism | ESPE2015
Klara Rozenkova; Petra Dusatkova; Lenka Dusatkova; Azizun Nessa; Barbora Obermannova; Jitka Kytnarova; Zdenek Sumnik; Jan Lebl;
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-491.htm
Published: 2015-08-26

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Congenital Hyperinsulinism Caused by a Combination of Novel Heterozygous ABCC8 and KCNJ11 Mutations | ESPE2015
Klara Rozenkova; Azizun Nessa; Barbora Obermannova; Lenka Dusatkova; Petra Dusatkova; Zdenek Sumnik; Jan Lebl; Khalid Hussain; S
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-490.htm
Published: 2015-08-26

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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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Molecular Genetic Analysis of Czech Patients with Congenital Hyperinsulinism: Surprisingly High Incidence of <em>HNF1A</em> Mutations | ESPE2014
Klara Rozenkova; Lenka Dusatkova; Petra Dusatkova; Jitka Kytnarova; Barbora Obermannova; Blanka Rypackova; Zdenek Sumnik; Jan Le
http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-183.htm
Published: 2014-08-28

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