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Showing page 1 of results 1 - 10 of about 54 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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Congenital Hyperinsulinism Due to Pancreatic Mosaicism for Paternal Uniparental Disomy of all Chromosome 11, with the Additional Finding of Pancreatic Mosaicism for Trisomy 12 | ESPE2019
Louise Conwell; James Harraway; Mark Williams; Christopher Joy; Bonnie Scurry; Kevin Lee; Craig McBride; Kelvin Choo; Tony Huynh
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-65
Published: 2019-08-22

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Hyperinsulinaemic Hypoglycaemia: A New Presentation of 16p11.2 Duplication Syndrome | ESPE2019
Louise Conwell; Sarah Flanagan
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-64
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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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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Heterozygous Insulin Receptor (INSR) Mutation associated with Neonatal Hyperinsulinaemic Hypoglycaemia and Familial Diabetes Mellitus | ESPE2019
Aashish Sethi; Syed Haris Ahmed; Kevin Colclough; Mohammed Didi; Sarah Flanagan; Senthil Senniappan
http://abstracts.eurospe.org/hrp/0092/hrp0092FC9.2
Published: 2019-08-22

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Monogenic Forms of Autoimmune Diabetes: Challenges and Opportunities | ESPE2019
Sarah Flanagan
http://abstracts.eurospe.org/hrp/0092/hrp0092S8.2
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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2 hit(s)
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37kb

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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