Results 91 to 100 of about 434 (146)

A 3-month-old Infant with Mottled Hypo- and Hyper-pigmented Patches on the Extremities: A Quiz. [PDF]

Acta Derm Venereol
Kim S, Jang DH, Kim HS.
europepmc   +1 more source

gene in two Chinese families with dyschromatosis symmetrica hereditaria

, 2016
Yan Zhao, Cai‐Xia Liu, Xue‐Gang Xu, Yuan Lv, Hong‐kun Jiang   +4 more
core   +1 more source

Clinical Overlaps in Reticulate Pigmentary Disorders: A Study of Three Cases. [PDF]

Cureus
Malik N, Nair RS, Reddy A, Chaurasia P, Pillai NS.   +4 more
europepmc   +1 more source

Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing. [PDF]

Sci Rep
Lu YT, Tran UV, Tran HT, Nguyen TL, Nguyen TM, Vu CD, Ta TA, Nguyen TT, Hoang LP, Pham AN, Vu PM, Cam PN, Dao Thi T, Nguyen KT, Nguyen TL, Tran KT, Nguyen KV, Nguyen YN, Le LT, Do TT, Nguyen HN, Hoang TN, Giang H, Tang HS.   +23 more
europepmc   +1 more source

Acquired Speckled Acrofacial Hypomelanosis: A Novel Case Report. [PDF]

Case Rep Dermatol
Aldawsari SA, Albaqshi MA, Almarzooq ZY, Alsaid Alhashem FA, Almulla SA.   +4 more
europepmc   +1 more source

gene in a Chinese patient with dyschromatosis symmetrica hereditaria

, 2014
X.‐J. Li, X.‐Y. Xia, T. Ni, Y.‐X. Cui, W.‐W. Li, C. Zhang, Q.‐Y. Wu, N. Li, T.‐F. Li   +8 more
core   +1 more source

Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease. [PDF]

Nat Rev Genet
Li JB, Walkley CR.
europepmc   +1 more source

Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?

, 2013
Michihiro Kono, Masashi Akiyama, Mutsumi Suganuma, Yasushi Tomita, Amarilis Sanchez‐Valle   +4 more
core   +1 more source

The role of untranslated region variants in Mendelian disease: a review. [PDF]

Eur J Hum Genet
Wieder N, D'Souza EN, Dawes R, Chan A, Martin-Geary A, Whiffin N.   +5 more
europepmc   +1 more source

Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria

, 2017
S.-J. Feng, S.-D. Zhang, J.-J. Zhao, K. NH-Tseung   +3 more
core   +1 more source