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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. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3172-3180. doi: 10.1210/jc.2018-02468. J Clin Endocrinol Metab. 2019. PMID: 30865229
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y. Pode-Shakked B, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14. Mol Genet Metab. 2019. PMID: 31445883 Free PMC article.
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y. Pode-Shakked N, et al. Eur J Med Genet. 2020 Jun;63(6):103901. doi: 10.1016/j.ejmg.2020.103901. Epub 2020 Mar 6. Eur J Med Genet. 2020. PMID: 32151765
Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem Cells.
Pode-Shakked N, Pleniceanu O, Gershon R, Shukrun R, Kanter I, Bucris E, Pode-Shakked B, Tam G, Tam H, Caspi R, Pri-Chen S, Vax E, Katz G, Omer D, Harari-Steinberg O, Kalisky T, Dekel B. Pode-Shakked N, et al. Sci Rep. 2016 Mar 29;6:23562. doi: 10.1038/srep23562. Sci Rep. 2016. PMID: 27020553 Free PMC article.
42 results