Hasil Pencarian - Sarah E. Flanagan

Perbaiki Hasil
  1. 1
    Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease

    Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease oleh Thomas I. Hewat, Matthew B. Johnson, Sarah E. Flanagan

    Diterbitkan 2022-07-01
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  2. 2
    MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

    MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis oleh Hanan Hassan Aly, Elisa De Franco, Sarah E. Flanagan, Yasmine I. Elhenawy

    Diterbitkan 2023-04-01
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  3. 3
    Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation

    Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation oleh Ved Bhushan Arya, Jennifer Kalitsi, Ann Hickey, Sarah E Flanagan, Ritika R Kapoor

    Diterbitkan 2019-05-01
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  4. 4
    Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

    Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation oleh Emregül Işık, Hüseyin Demirbilek, Jayne A. Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain

    Diterbitkan 2019-03-01
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  5. 5
    Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia

    Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia oleh Sarah E Flanagan, Ritika R Kapoor, Virpi V. Smith, Khalid eHussain, Sian eEllard

    Diterbitkan 2011-11-01
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  6. 6
    Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism.

    Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. oleh Ved Bhushan Arya, Senthil Senniappan, Huseyin Demirbilek, Syeda Alam, Sarah E Flanagan, Sian Ellard, Khalid Hussain

    Diterbitkan 2014-01-01
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  7. 7
    Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

    Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth oleh Alice E. Hughes, Elisa De Franco, Rachel M. Freathy, Fetal Insulin and Growth Consortium, Sarah E. Flanagan, Andrew T. Hattersley

    Diterbitkan 2023-03-01
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  8. 8
    Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

    Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series oleh Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan

    Diterbitkan 2020-12-01
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  9. 9
    Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation

    Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation oleh Sarah Kiff, Carolyn Babb, Maria Guemes, Antonia Dastamani, Clare Gilbert, Sarah E Flanagan, Sian Ellard, John Barton, M Dattani, Pratik Shah

    Diterbitkan 2019-02-01
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  10. 10
    Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

    Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD) oleh Sumaya Islam, Mehmet Tekman, Sarah E. Flanagan, Lisa Guay‐Woodford, Khalid Hussain, Sian Ellard, Robert Kleta, Detlef Bockenhauer, Horia Stanescu, Daniela Iancu

    Diterbitkan 2021-12-01
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  11. 11
    Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

    Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1 oleh Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah

    Diterbitkan 2023-03-01
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  12. 12
    SavvyCNV: Genome-wide CNV calling from off-target reads.

    SavvyCNV: Genome-wide CNV calling from off-target reads. oleh Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard, Michael N Weedon, Sarah E Flanagan, Matthew N Wakeling

    Diterbitkan 2022-03-01
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  13. 13
    Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP

    Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP oleh Luke A Perera, Andrew T Hattersley, Heather P Harding, Matthew N Wakeling, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron, Elisa De Franco

    Diterbitkan 2023-03-01
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  14. 14
    Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism

    Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism oleh Jayne AL Houghton, Indraneel Banerjee, Guftar Shaikh, Shamila Jabbar, Thomas W Laver, Edmund Cheesman, Amish Chinnoy, Daphne Yau, Maria Salomon‐Estebanez, Mark J Dunne, Sarah E Flanagan

    Diterbitkan 2020-01-01
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  15. 15
    Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.

    Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. oleh Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton, Guftar Shaikh, Tim Cheetham, Talat Mushtaq, Ritika R Kapoor, Tabitha Randell, Sian Ellard, Pratik Shah, Indraneel Banerjee, Sarah E Flanagan

    Diterbitkan 2020-01-01
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  16. 16
    Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia

    Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia oleh Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee

    Diterbitkan 2020-06-01
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  17. 17
    A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family

    A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family oleh Suresh Chandran, Suresh Chandran, Suresh Chandran, Suresh Chandran, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Victor Samuel Rajadurai, Wai Han Hoi, Sarah E. Flanagan, Khalid Hussain, Fabian Yap, Fabian Yap, Fabian Yap

    Diterbitkan 2020-06-01
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  18. 18
    Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes

    Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes oleh Pamela Bowman, Kashyap A Patel, Timothy J McDonald, Jens J Holst, Bolette Hartmann, Maria Leveridge, Beverley M Shields, Suzie Hammersley, Steve R Spaull, Bridget A Knight, Sarah E Flanagan, Maggie H Shepherd, Rob C Andrews, Andrew T Hattersley

    Diterbitkan 2023-12-01
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  19. 19
    Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations

    Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations oleh Can Thi Bich Ngoc, Can Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Maria E. Craig, Nguyen Huy Hoang, Tran Minh Dien

    Diterbitkan 2022-04-01
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  20. 20
    Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital

    Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children’s Hospital oleh Can Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, Sian Ellard, Sian Ellard, Jayne A. L. Houghton, Nguyen Ngoc Lan, Bui Phuong Thao, Nguyen Ngoc Khanh, Sarah E. Flanagan, Maria E. Craig, Maria E. Craig, Vu Chi Dung

    Diterbitkan 2021-09-01
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