Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Melissa D. Lah"'
Autor:
Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)
Abstract Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurat
Externí odkaz:
https://doaj.org/article/c2f6926b75584a169aec0e6ed77b3a2d
Publikováno v:
Pediatric dermatology. 35(4)
Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar ke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7419a6b7fc9dd9ebb322ea2f8e852186
https://pubmed.ncbi.nlm.nih.gov/29633331
https://pubmed.ncbi.nlm.nih.gov/29633331
Publikováno v:
Genomics & Genetics Weekly; 8/23/2024, p629-629, 1p
The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
Publikováno v:
American Journal of Medical Genetics. Part A; Feb2019, Vol. 179 Issue 2, p300-305, 6p
Publikováno v:
Pediatric Dermatology; Jul2018, Vol. 35 Issue 4, pe218-e220, 3p, 2 Color Photographs, 1 Chart
Autor:
Armstrong, Margaret E.1,2 margaret-armstrong@uiowa.edu, Weaver, David D.1 dweaver@iu.edu, Lah, Melissa D.1 mspurr@iu.edu, Vance, Gail H.1,3 ghvance@iu.edu, Landis, Benjamin J.1,3 benjland@iu.edu, Ware, Stephanie M.1,3 stware@iu.edu, Helm, Benjamin M.1 bmhelm@iu.edu
Publikováno v:
Molecular Cytogenetics (17558166). 3/27/2018, Vol. 11, p1-1. 1p.