Výsledky vyhledávání - "Aparna K.R. Nambisan"

Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review

Autor: Ved Bhushan Arya, Ekaterini Vamvakiti, Tony Hulse, Michal Ajzensztejn, Nadia Muhi-Iddin, Aparna K.R. Nambisan, Garima Chawla, Ritika R. Kapoor, Charles R. Buchanan, Clare Ferreira Pinto, Susan Bint, Nayana Lahiri

Publikováno v: Hormone Research in Paediatrics. 92:382-389

Background: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a459fc046a6e19ab23d37c7d8e4f6847
https://doi.org/10.1159/000503784

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SOX3 gene duplication (OMIM 313430) associated with midline CNS malformations, hypopituitarism and neurodevelopmental abnormalities: 3 unrelated cases

Autor: Charles Buchanan, Tony Hulse, Ritika Kapoor, Michal Ajzensztejn, Aparna K.R. Nambisan

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b5781b46560eddf1a58cb2b2be5180e2
https://doi.org/10.1530/endoabs.51.p043

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Role of Degludec in improving diabetes outcomes in young people - An observational study from Young Diabetes Connections (YDC) Network, London

Autor: Marie Castro-Gonzalez, Aparna K.R. Nambisan, Amy Rowland, Simon Chapman, Tony Hulse, Ahmed Shamekh, Hannah Morrow, Michal Ajzensztejn, Martha Ford-Adams, Samantha Fredriksen, Joanna Lawrence

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b0ea4fae2c2025242b39cdbf95c1c592
https://doi.org/10.1530/endoabs.51.oc7.7

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