Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gurpur Shashidhar Pai"'
Autor:
Carter Ellis, BS, Chelsea Eason, MSCR, MD, Alan Snyder, BS, MSCR, Mark Siegel, MD, Gurpur Shashidhar Pai, MD, Erin Ryan, MS, CGC, LGC, Ellen G. Pfendner, PhD, Lara Wine Lee, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 11, Iss , Pp 63-68 (2021)
Externí odkaz:
https://doaj.org/article/09edf71856e54368b8910f92d0ee6894
Autor:
Gurpur Shashidhar Pai, Ellen G Pfendner, Alan Snyder, Mark Siegel, Lara Wine Lee, Carter Ellis, Chelsea Eason, Erin Ryan
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 11, Iss, Pp 63-68 (2021)
JAAD Case Reports, Vol 11, Iss, Pp 63-68 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ed94b853c7ca4260c01ae0c7fd7d1e
https://doi.org/10.1016/j.jdcr.2021.03.016
https://doi.org/10.1016/j.jdcr.2021.03.016
Autor:
Joseph Griffith, Kareem Sioufi, Laurie Wilbanks, George N. Magrath, Emil A. T. Say, Michael J. Lyons, Meg Wilkes, Gurpur Shashidhar Pai, Mae Millicent Winfrey Peterseim
Publikováno v:
Genes; Volume 13; Issue 8; Pages: 1490
Inherited retinal dystrophies (IRDs) are a group of rare diseases involving more than 340 genes and a variety of clinical phenotypes that lead to significant visual impairment. The aim of this study is to evaluate the rates and genetic characteristic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12bb5e53ee673b96f07550591fb9a7b4
https://doi.org/10.3390/genes13081490
https://doi.org/10.3390/genes13081490
Publikováno v:
Pediatric dermatologyREFERENCES. 38(2)
Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b820e98fb6bb5f8e1e131bbbf7fa142
https://pubmed.ncbi.nlm.nih.gov/33464633
https://pubmed.ncbi.nlm.nih.gov/33464633
Publikováno v:
Pediatric Dermatology. 26:83-86
The X-linked disorder incontinentia pigmenti (IP) with its well-defined underlying defect in the NFkappaB essential modulator (NEMO) gene and its variability in patients' phenotypes offers an excellent opportunity for expanding knowledge of the funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa2eb17f7994753afa0164b73f86aafe
https://doi.org/10.1111/j.1525-1470.2008.00829.x
https://doi.org/10.1111/j.1525-1470.2008.00829.x
Publikováno v:
Pediatric dermatology. 10(1)
The fibromatoses are a group of benign proliferations of fibrous tissue with clinical behavior ranging from that of truly malignant tumors to that of benign reactive fibrous proliferations. Some of the superficial fibromatoses are fairly common, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04796cbc606f00486ac80c90bda1bde
https://pubmed.ncbi.nlm.nih.gov/8493169
https://pubmed.ncbi.nlm.nih.gov/8493169
Publikováno v:
The American Journal of dermatopathology. 12(5)
A case of multiple rhabdomyomatous mesenchymal hamartomas is presented. The patient is a black male infant, the product of an uncomplicated term gestation and delivery. At birth, there were numerous polyps distributed over the periorbital and periaur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eabec39d2b27898a8f1d3aba7d2e1fd
https://pubmed.ncbi.nlm.nih.gov/1928629
https://pubmed.ncbi.nlm.nih.gov/1928629