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A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Kessel I, German A, Peleg A; Regeneron Genetics Center; Gonzaga-Jauregui C, Paperna T, Ekhilevitch N, Kurolap A, Baris Feldman H, Sagi-Dain L. Kessel I, et al. Among authors: german a. Am J Med Genet A. 2021 Oct;185(10):3161-3166. doi: 10.1002/ajmg.a.62401. Epub 2021 Jun 19. Am J Med Genet A. 2021. PMID: 34145742
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M, Sagi-Dain L, Krumbach OHF, Hahn A, Peleg A, German A, Lissewski C, Coppola S, Pantaleoni F, Kocherscheid L, Altmüller F, Schanze D, Logeswaran T, Chahrokh-Zadeh S, Munzig A, Nakhaei-Rad S, Cavé H, Ahmadian MR, Tartaglia M, Zenker M. Motta M, et al. Among authors: german a. Hum Mol Genet. 2020 Jul 21;29(11):1772-1783. doi: 10.1093/hmg/ddz108. Hum Mol Genet. 2020. PMID: 31108500
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
Pode-Shakked N, Blau A, Pode-Shakked B, Tiosano D, Weintrob N, Eyal O, Zung A, Levy-Khademi F, Tenenbaum-Rakover Y, Zangen D, Gillis D, Pinhas-Hamiel O, Loewenthal N, de Vries L, Landau Z, Rachmiel M, Abu-Libdeh A, Eliakim A, Strich D, Koren I, German A, Sack J, Almashanu S. Pode-Shakked N, et al. Among authors: german a. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3172-3180. doi: 10.1210/jc.2018-02468. J Clin Endocrinol Metab. 2019. PMID: 30865229
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: german a. 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
Sexual Dimorphism of Size Ontogeny and Life History.
German A, Hochberg Z. German A, et al. Front Pediatr. 2020 Jul 24;8:387. doi: 10.3389/fped.2020.00387. eCollection 2020. Front Pediatr. 2020. PMID: 32793524 Free PMC article.
530 results