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Showing page 1 of results 1 - 10 of about 1000 pages

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Detection of EIF1AX>, CHEK2 and PPM1D gene variants in thyroid carcinomas | ECE2019
Sarka Dvorakova; Barbora Pekova; Vlasta Sykorova; Gabriela Vacinova; Eliska Vaclavikova; Jitka Moravcova; Rami Katra; Petr Vlcek
https://www.endocrine-abstracts.org/ea/0063/ea0063gp91.htm
Published: 2019-05-01

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44 hit(s)
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Identifying disease causing variants in aryl hydrocarbon receptor-interacting protein (AIP) variants and their significance on the clinical phenotypes | SFEBES2018
Zhou Jordi Yang; Vignola M Lillina; David Collier; Lim Chung Thong; Donato Iacovazzo; Sherine Awad; Marta Korbonits
https://www.endocrine-abstracts.org/ea/0059/ea0059p127.htm
Published: 2018-11-02

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Multiple endocrine neoplasia type 1 (MEN1) mosaicism caused by a c.124G>A variant in the MEN1 gene | SFEBES2019
Rachel Mauchlen; David Carty; Maria Talla; Russell Drummond
https://www.endocrine-abstracts.org/ea/0065/ea0065cc4
Published: 2019-11-06

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Multiple endocrine neoplasia type 1 (MEN1) mosaicism caused by a c.124G>A variant in the MEN1 gene | SFEBES2019
Rachel Mauchlen; David Carty; Maria Talla; Russell Drummond
https://www.endocrine-abstracts.org/ea/0065/ea0065cc4.htm
Published: 2019-11-06

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The significance of rare genetic variants in the thyroid autoimmunity - brief review and our own results on SLC26A4 variants in Hashimoto's thyroiditis | ECE2018
Agata Jabrocka-Hybel; Anna Skalniak; Jakub Pietkowski; Alicja Hubalewska-Dydejczyk
http://www.endocrine-abstracts.org/ea/0056/ea0056p1115.htm
Published: 2018-05-08

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Characterisation of rare <em>GNA11</em><em> </em>variants reveals 8 novel residues important for signalling by the calcium-sensing receptor: Relevance for FHH and ADH | SFEBES2019
Anna Gluck; Kate Lines; Caroline Gorvin; Asuka Inoue; Fadil Hannan; Gerda Breitwieser; Rajesh Thakker
https://www.endocrine-abstracts.org/ea/0065/ea0065oc3.4
Published: 2019-11-06

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Characterisation of rare <em>GNA11</em><em> </em>variants reveals 8 novel residues important for signalling by the calcium-sensing receptor: Relevance for FHH and ADH | SFEBES2019
Anna Gluck; Kate Lines; Caroline Gorvin; Asuka Inoue; Fadil Hannan; Gerda Breitwieser; Rajesh Thakker
https://www.endocrine-abstracts.org/ea/0065/ea0065oc3.4.htm
Published: 2019-11-06

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A NCOA5 Gene Variant in A Pedigree With Maternally Inherited Precocious Puberty | ESPE2019
Magdalena Avbelj Stefanija; Jernej Kovac; Galia Gat-Yablonski; Nataša Bratina; Jasna Šuput Omladič; Moshe Phillip; Tadej Batt
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-109
Published: 2019-08-22

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A NCOA5 Gene Variant in A Pedigree With Maternally Inherited Precocious Puberty | ESPE2019
Magdalena Avbelj Stefanija; Jernej Kovac; Galia Gat-Yablonski; Nataša Bratina; Jasna Šuput Omladič; Moshe Phillip; Tadej Batt
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-109.html
Published: 2019-08-22

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ARMC5 variants and risk of hypertension in African Americans: Minority Health-GRID study | ECE2018
Mihail Zilbermint; Amadou Gaye; Annabel Berthon; Fady Hannah-Shmouni; Fabio Faucz; Health-GRID Network Fabio Minority; Adam Davi
http://www.endocrine-abstracts.org/ea/0056/ea0056oc10.3.htm
Published: 2018-05-08

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