Results 121 to 130 of about 695 (177)

Adenosine deaminase acting on RNA1 mutation in chilblain lupus treated with tofacitinib. [PDF]

JAAD Case Rep
Velaoras AT, Iqbal S, Silberzweig A, Frasier K, Gottesman SP, Magro CM, Shaigany S.   +6 more
europepmc   +1 more source

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

Dyschromatosis Symmetrica Hereditaria

Nishi Nihon Hifuka, 1973
openaire   +1 more source

Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome. [PDF]

Pediatr Dermatol
Ahmed F, Do N, Vanderver AL, Treat JR.
europepmc   +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

Intronic hexanucleotide repeat expansion in <i>TYMS</i> in monozygotic twins with congenital progressive universal melanosis. [PDF]

Biomed Rep
Kanchanasutthiyakorn S, Chaiyamahapurk S, Tongkobpetch S, Santawong K, Srichomthong C, Klomchan T, Virochsangaroon C, Pongpanich M, Warnnissorn P, Pongcharoen S, Shotelersuk V.   +10 more
europepmc   +1 more source

Removal of forearm lentigines in dyschromatosis universalis hereditaria with a 755-nm Q-switched alexandrite laser

JAAD Case Reports, 2018
Yiming Li, MD, PhD, Li Li, MD, PhD
doaj   +1 more source

Case Report: Heterozygous <i>ADAR</i> c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family. [PDF]

Front Immunol
Bauer AK, Marquardt I, Sundermann B, Wolf C, Raupach K, Grundmann-Hauser K, Gieldon L, Otterbach M, Maurer M, Haack T, Lee-Kirsch MA, Korenke GC, Hitz MP.   +12 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