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Showing page 1 of results 1 - 10 of about 57 pages

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Clinical and Genetic Characteristics of Patients with Hyperinsulinaemic Hypoglycaemia Diagnosed and Treated at a Tertiary Endocrine Center, a part of the ENDO-ERN | ESPE2019
Sonya Galcheva; Violeta Iotova; Sian Ellard; Jivka Chuperkova; Yuliya Bazdarska; Yana Bocheva; Sarah E. Flanagan
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-149
Published: 2019-08-22

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Clinical Characteristics and Long Term Follow Up of 17 Patients with Permanent Neonatal Diabetes due to PTF1A Distal Enhancer Mutations | ESPE2019
Huseyin Demirbilek; Atilla Cayir; Elisa DeFranco; Yilmaz Kor; Melek Yildiz; Ruken Yildirim; Riza Taner Baran; Meliha Demiral; Be
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-207
Published: 2019-08-22

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A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation | ESPE2019
Gülçin Arslan; Sezer ACAR; Özlem Nalbantoglu; Özge Köprülü; Beyhan Özkaya; Franco Elisa De; Sian Ellard; Behzat Özkan
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-27
Published: 2019-08-22

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Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre | ESPE2019
Laura Bosch; Mohammad Jasmina Kallefullah; Antonia Dastamani; Clare Gilbert; Kate Morgan; Jayne Houghton; Sian Ellard; Sarah Fla
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC9.4
Published: 2019-08-22

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Clinical and Genetic Characteristics of Patients with Hyperinsulinaemic Hypoglycaemia Diagnosed and Treated at a Tertiary Endocrine Center, a part of the ENDO-ERN | ESPE2019
Sonya Galcheva; Violeta Iotova; Sian Ellard; Jivka Chuperkova; Yuliya Bazdarska; Yana Bocheva; Sarah E. Flanagan
http://abstracts.eurospe.org/hrp/0092/hrp0092p2-149.html
Published: 2019-08-22

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Clinical Characteristics and Long Term Follow Up of 17 Patients with Permanent Neonatal Diabetes due to PTF1A Distal Enhancer Mutations | ESPE2019
Huseyin Demirbilek; Atilla Cayir; Elisa DeFranco; Yilmaz Kor; Melek Yildiz; Ruken Yildirim; Riza Taner Baran; Meliha Demiral; Be
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-207.html
Published: 2019-08-22

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A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation | ESPE2019
Gülçin Arslan; Sezer ACAR; Özlem Nalbantoglu; Özge Köprülü; Beyhan Özkaya; Franco Elisa De; Sian Ellard; Behzat Özkan
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-27.html
Published: 2019-08-22

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2 hit(s)
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Correlation Between Genotype and Phenotype Characteristics in Children with Congenital Hyperinsulinism (CHI) in a Specialist Centre | ESPE2019
Laura Bosch; Mohammad Jasmina Kallefullah; Antonia Dastamani; Clare Gilbert; Kate Morgan; Jayne Houghton; Sian Ellard; Sarah Fla
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc9.4.html
Published: 2019-08-22

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Neonatal Diabetes Mellitus in Vietnam National Children Hospital | ESPE2018
Can Thi Bich Ngoc; Vu Chi Dung; Bui Phuong Thao; Nguyen Ngoc Khanh; Do Thi Thanh Mai; Sian Ellard; Houghton Jayne; Sarah Flanaga
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p175.htm
Published: 2018-08-28

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A Boy with Diazoxide Unresponsive Congenital Hyperinsulinism due to a Homozygous ABCC8 Missense Mutation Previously Reported to be Dominant | ESPE2018
Sonya Galcheva; Violeta Iotova; Sarah E Flanagan; Sian Ellard; Andrew Hattersley
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p187.htm
Published: 2018-08-28

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