Get started
Author

S.G. Khan

OpenAlex ID: A5076794508
151 Complex phenotypes in trichothiodystrophy patients with XPD (ERCC2) mutations
2021 · J. Jeskey, E.H. Rizza, et al. · Journal of Investigative Dermatology
106 XPC splice site founder mutation in families with xeroderma pigmentosum from Dominican Republic and Honduras
2020 · S.G. Khan, D. Tamura, et al. · Journal of Investigative Dermatology
261 Assessment of readthrough of premature termination codons in xeroderma pigmentosum group C patients by real-time PCR and immunohistochemistry
2020 · E.R. Heller, L. Al-Eryani, et al. · Journal of Investigative Dermatology
266 Trichothiodystrophy, a multisystem disorder with early onset debilitating hip degeneration
2020 · J.J. DiGiovanna, E.R. Heller, et al. · Journal of Investigative Dermatology
LB1086 Deep phenotyping using principal component analysis effectively arrays XPD (ERCC2) xeroderma pigmentosum and trichothiodystrophy patient phenotypes: The XP-TTD coefficient
2019 · J.M. Pugh, G.W. Nelson, et al. · Journal of Investigative Dermatology
PDF
137 Mixed phenotype acute leukemia in xeroderma pigmentosum
2018 · M. Levoska, D. Tamura, et al. · Journal of Investigative Dermatology
750 Hematologic abnormalities in trichothiodystrophy
2018 · G. Randall, K. Oetjen, et al. · Journal of Investigative Dermatology
753 Use of hierarchical clustering and principal component analysis for deep phenotyping of patients with mutations in XPD (ERCC2): trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and XP/TTD
2018 · M. Levoska, J. Pugh, et al. · Journal of Investigative Dermatology
Works count: 8
Citation count:
H-index:
I10-index:
Year
Topic
Type