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Homozygous truncating PTPRF mutation causes athelia.
Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Nürnberg G, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Nürnberg P, Foley J, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: de vries l. Hum Genet. 2014 Aug;133(8):1041-7. doi: 10.1007/s00439-014-1445-1. Epub 2014 Apr 30. Hum Genet. 2014. PMID: 24781087
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.
Solomon-Zemler R, Basel-Vanagaite L, Steier D, Yakar S, Mel E, Phillip M, Bazak L, Bercovich D, Werner H, de Vries L. Solomon-Zemler R, et al. Among authors: de vries l. Endocr Connect. 2017 Aug;6(6):395-403. doi: 10.1530/EC-17-0038. Epub 2017 Jun 25. Endocr Connect. 2017. PMID: 28649085 Free PMC article.
Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency.
Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Faisal Ahmed S, Balsamo A, Baronio F, Cannuccia A, Guven A, Guran T, Darendeliler F, Higham C, Bonfig W, de Vries L, Bachega TASS, Miranda MC, Mendonca BB, Iotova V, Korbonits M, Krone NP, Krone R, Lenzi A, Arlt W, Ross RJ, Isidori AM, Tomlinson JW. Pofi R, et al. Among authors: de vries l. J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz055. doi: 10.1210/clinem/dgz055. J Clin Endocrinol Metab. 2020. PMID: 31613957
Primary Ovarian Insufficiency Nationwide Incidence Rate and Etiology Among Israeli Adolescents.
Gruber N, Kugler S, de Vries L, Brener A, Zung A, Eyal O, Rachmiel M, Koren I, Tenenbaum-Rakover Y, Hershkovitz E, Landau Z, Oren M, Eliakim A, Zangen D, German A, Majdoub H, Mazor-Aronovitch K, Modan-Moses D, Yeshayahu Y, Naugolni L, Levy-Shraga Y, Ben-Ami M, Brill G, Zuckerman-Levin N, Levy-Khademi F, Avnon-Ziv C, Tiosano D, Harel S, Kedem E, Segev-Becker A, Shoenfeld Y, Pinhas-Hamiel O. Gruber N, et al. Among authors: de vries l. J Adolesc Health. 2020 May;66(5):603-609. doi: 10.1016/j.jadohealth.2019.11.315. Epub 2020 Jan 25. J Adolesc Health. 2020. PMID: 31987720
964 results