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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS, Xu C, Papadakis GE, Niederländer NJ, Rademaker JD, Meylan J, Messina A, Kolesinska Z, Quinton R, Lang-Muritano M, Bartholdi D, Halperin I, De Geyter C, Bouligand J, Bartoloni L, Young J, Santoni FA, Pitteloud N. Acierno JS, et al. Among authors: halperin i. Genet Med. 2020 Nov;22(11):1759-1767. doi: 10.1038/s41436-020-0896-0. Epub 2020 Jul 29. Genet Med. 2020. PMID: 32724172 Free article.
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Xu C, Cassatella D, van der Sloot AM, Quinton R, Hauschild M, De Geyter C, Flück C, Feller K, Bartholdi D, Nemeth A, Halperin I, Pekic Djurdjevic S, Maeder P, Papadakis G, Dwyer AA, Marino L, Favre L, Pignatelli D, Niederländer NJ, Acierno J, Pitteloud N. Xu C, et al. Among authors: halperin i. Genet Med. 2018 Aug;20(8):872-881. doi: 10.1038/gim.2017.197. Epub 2017 Nov 16. Genet Med. 2018. PMID: 29144511 Free article.
Familial non medullary thyroid carcinoma: Beyond the syndromic forms.
Orois A, Mora M, Halperin I, Oriola J. Orois A, et al. Among authors: halperin i. Endocrinol Diabetes Nutr (Engl Ed). 2021 Apr;68(4):260-269. doi: 10.1016/j.endien.2020.08.013. Epub 2021 Jul 8. Endocrinol Diabetes Nutr (Engl Ed). 2021. PMID: 34266638 Review.
Familial non medullary thyroid carcinoma: Beyond the syndromic forms.
Orois A, Mora M, Halperin I, Oriola J. Orois A, et al. Among authors: halperin i. Endocrinol Diabetes Nutr (Engl Ed). 2021 Apr;68(4):260-269. doi: 10.1016/j.endinu.2020.08.002. Epub 2020 Nov 13. Endocrinol Diabetes Nutr (Engl Ed). 2021. PMID: 33191196 Review. English, Spanish.
268 results