Results 151 to 160 of about 3,399 (216)

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]

Orphanet J Rare Dis
Kovalskaia VA, Cherevatova TB, Zinina EV, Shagina OA, Vorontsova EO, Matyushchenko GN, Demina NA, Petukhova MP, Markova TV, Guseva DM, Galkina VA, Anisimova IV, Stepanova AA, Chuhrova AL, Sharova MV, Bostanova FM, Voskanyan AE, Polyakov AV, Ryzhkova OP.   +18 more
europepmc   +1 more source

Usefulness of digital infrared thermography video using FLIR T560 in detecting hypothermia associated with complex regional pain syndrome type I: A CARE-compliant case report. [PDF]

Medicine (Baltimore)
Jang Y, Kim S, Chang MC.
europepmc   +1 more source

Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma. [PDF]

Acta Derm Venereol
Xu X, Lin Z, Lin Y, Kang H, Xiao C.
europepmc   +1 more source

Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation. [PDF]

Front Immunol
Yuan Y, Zhang X, Zhao Y, Wang Y, Huang J, Wang Q, Song X, Deng J, Wang Z, Yuan Y, Zhang W.   +10 more
europepmc   +1 more source

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. [PDF]

J Adv Res
Guo W, Ji P, Li Y, Zhang Y, Bi J, Xie Y.
europepmc   +1 more source

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

A New Class of Pathogenic Non-Coding Variants in GLA. [PDF]

Int J Mol Sci
Yuan Y, Zhang X, Ling C, Zhao Y, Yu M, Wang Z, Yuan Y, Xie Z, Zhang W.   +8 more
europepmc   +1 more source

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. [PDF]

Int J Clin Pediatr Dent
D'Souza OK, Dukle SG, Naik R, de Ataide IN.   +3 more
europepmc   +1 more source

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant. [PDF]

Neurol Sci
Ahmad R, Zamani M, Naeem M, Houlden H.
europepmc   +1 more source

Ulcerative Lesion of the Ileocecal Region in a Patient With Immunodeficiency. [PDF]

J Gastroenterol Hepatol
Kinoshita N, Kakimoto K, Kaji E, Mizuta N, Numa K, Nakazawa K, Koshiba R, Hirata Y, Miyazaki T, Nakamura S, Nishikawa H.   +10 more
europepmc   +1 more source