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Showing page 1 of results 1 - 10 of about 22 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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Spectrum of Neuro-Developmental Disorders in Children with Congenital Hyperinsulinism Due to Activating Mutations in GLUD1 | ESPE2019
Sommayya Aftab; Diliara Gubaeva; Antonia Dastamani; Ellada Sotiridou; Clare Gilbert; Jayne Houghton; Sarah E. Flanagan; Maria Me
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC9.5
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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Spectrum of Neuro-Developmental Disorders in Children with Congenital Hyperinsulinism Due to Activating Mutations in GLUD1 | ESPE2019
Sommayya Aftab; Diliara Gubaeva; Antonia Dastamani; Ellada Sotiridou; Clare Gilbert; Jayne Houghton; Sarah E. Flanagan; Maria Me
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc9.5.html
Published: 2019-08-22

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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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Clinical Characterstics, Genotype-Phenotype Correlations and Follow Up of Patients with Congenital Hyperinsulinaemic Hypoglycaemia; Single Center Experience from a Southeastern City of Turkey | ESPE2018
Mehmet Nuri Ozbek; Huseyin Demirbilek; Belma Haliloglu; Meliha Demiral; Riza Taner Baran; Sian Ellard; Jayne Houghton; Sarah E F
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p182.htm
Published: 2018-08-28

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Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology | ESPE2018
Kashyap A Patel; Kevin Colclough; Ozbek Mehmet Nuri; Melek Yildiz; Tulay Guran; Cemil Kocyigit; Sezer Acar; Zeynep Siklar; Muge
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p058.htm
Published: 2018-08-28

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Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism | ESPE2016
Dung Vu; Anh Duong Dang; Phuong Thao Bui; Thi Bich Ngoc Can; Ngoc Khanh Nguyen; Phu Dat Nguyen; Minh Dien Tran; Sarah E Flanagan
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p570.htm
Published: 2016-08-19

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