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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Genet Med. 2021 Apr;23(4):629-636. doi: 10.1038/s41436-020-01051-3. Epub 2021 Jan 13.
Genet Med. 2021.
PMID: 33442024
Free PMC article.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R.
Rojas RA, et al. Among authors: gambosova k.
Genet Med. 2023 Jun;25(6):100855. doi: 10.1016/j.gim.2023.100855.
Genet Med. 2023.
PMID: 37272927
Free article.
No abstract available.
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EGF regulates survivin stability through the Raf-1/ERK pathway in insulin-secreting pancreatic β-cells.
Wang H, Gambosova K, Cooper ZA, Holloway MP, Kassai A, Izquierdo D, Cleveland K, Boney CM, Altura RA.
Wang H, et al. Among authors: gambosova k.
BMC Mol Biol. 2010 Aug 31;11:66. doi: 10.1186/1471-2199-11-66.
BMC Mol Biol. 2010.
PMID: 20807437
Free PMC article.
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Picture of the month: adrenoleukodystrophy and adrenomyeloneuropathy.
Burke S, Buchanan AO, Shur N, Gambosova K, Harappanahally GV, Quintos JB.
Burke S, et al. Among authors: gambosova k.
Arch Pediatr Adolesc Med. 2010 Jan;164(1):97-8. doi: 10.1001/archpediatrics.2009.245-a.
Arch Pediatr Adolesc Med. 2010.
PMID: 20048250
No abstract available.
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