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Showing page 1 of results 1 - 10 of about 27 matches for "dattani-mehul-t"

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A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome
Edna Roche; Anne McGowan; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta
http://www.endocrine-abstracts.org/ea/0051/ea0051p060.htm
Published: 2017-10-30

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A novel IGSF1 mutation in a large Irish kindred highlights the need for systematic familial endocrine screening in the IGSF1 deficiency syndrome
Anne McGowan; Edna Roche; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta
http://www.endocrine-abstracts.org/ea/0050/ea0050oc2.3.htm
Published: 2017-10-20

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Final Height Data in a Cohort of Patients with Congenital Adrenal Hyperplasia Treated with Tailored Doses of Hydrocortisone
Wey Pang Gloria Shir; Gill Rumsby; Peter C Hindmarsh; Mehul T Dattani
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p62.htm
Published: 2016-08-19

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Septo-optic Dysplasia Spectrum: Pubertal Features of a Large Cohort of Children and Adolescents with Septo-optic Dysplasia, Congenital Hypopituitarism and Optic Nerve Hypoplasia from a Single Centre
Manuela Cerbone; Maria Guemes; Nicola Improda; Mehul T Dattani
http://abstracts.eurospe.org/hrp/0086/hrp0086fc3.5.htm
Published: 2016-08-19

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A Novel Mutation in Eukaryotic Translation Initiation Factor 2 Subunit 3 (EIF2S3) is Associated with X-Linked Hypopituitarism and Glucose Dysregulation
Louise C. Gregory; Hywel Williams; Sophia Rahman; Carolina B. Ferreira; Kyriaki S. Alatzoglou; Ritika R. Kapoor; Khalid Hussain;
http://abstracts.eurospe.org/hrp/0086/hrp0086fc3.4.htm
Published: 2016-08-19

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Endocrine Features of a Large Cohort of Children with Septo-Optic Dysplasia and Congenital Multiple Pituitary Hormonal Deficiencies
Manuela Cerbone; Maria Guemes; Tessa Kasia; Mehul T Dattani
http://abstracts.eurospe.org/hrp/0082/hrp0082fc11.5.htm
Published: 2014-08-28

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Novel SOX2 Mutation: Identification of New Molecular Mechanisms of SOX2 Action and Interactions
Kyriaki S. Alatzoglou; Cynthia L. Andoniadou; Daniel Kelberman; Hyoong-Goo Kim; Edward Botse-Baidoo; Jennifer Pedersen-White; La
http://abstracts.eurospe.org/hrp/0082/hrp0082fc11.2.htm
Published: 2014-08-28

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Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene
Aleksandra Janchevska; Jan Idkowiak; Elisabeta Caredda; Jane Hurst; Mehul T Dattani; Wiebke Arlt; Helen A Spoudeas
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-303.htm
Published: 2015-08-26

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Recombinant Human IGF1 Treatment in Patients with Insulin Receptor Mutations Resulting in Donohue Syndrome: A 10-Year Experience in a Tertiary Centre
Nicola Improda; Harshini Katugampola; Pratik Shah; Hannah Gordon; Rakesh Amin; Catherine J Peters; Robert K Semple; Mehul T Datt
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-250.htm
Published: 2015-08-26

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Atypical Features in Patients with Leprechaunism Suggesting a Wide Clinical Spectrum of Disease
Harshini Katugampola; Nicola Improda; Pratik Shah; Hannah Gordon; Rakesh Amin; Catherine J Peters; Robert K Semple; Mehul T Datt
http://abstracts.eurospe.org/hrp/0084/hrp0084p1-100.htm
Published: 2015-08-26

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