Results 81 to 90 of about 2,281 (168)

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database. [PDF]

Intractable Rare Dis Res
Wang J, Liu J, Chen J, Zhang A, Mao J, Shen T, Jiang X, Wang M, Tao Y, Zhao B, Wang X, Li Z, Chen A, Chen C, Zhang B, Zhang D, Zhao L, Zhao Y, Bao Y, Bai L, Liu C, Wang F, Hu F, Chen M, Lv X, Sun S, Shen Q, Xu H.   +27 more
europepmc   +1 more source

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights. [PDF]

BMC Oral Health
Thaweesapphithak S, Krasaesin A, Prommanee S, Intarak N, Pongsapipatana N, Sriwattanapong K, Sukarawan W, Fakhruddin KS, Porntaveetus T.   +8 more
europepmc   +1 more source

Localized hypohidrosis is an unrecognized sequela of herpes zoster [PDF]

Journal of the American Academy of Dermatology, 2017
Yukiko, Ushigome, Yohei, Sato, Yurie, Shimoda, Yoshimi, Yamazaki, Tetsuo, Shiohara   +4 more
openaire   +2 more sources

ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity. [PDF]

JAAD Case Rep
Elhofy N, Almukhaimar SK, Alyaseen SY, Aldandan AW, Al-Mulhem MA.   +4 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report. [PDF]

Pan Afr Med J
Mukhtar MA, Amine AAA, Muctar SA, Ibrahim ME, Mohamed HS.   +4 more
europepmc   +1 more source

A classical variant of ectodermal dysplasia: a case report. [PDF]

Pan Afr Med J
Jawade S, Wankhede P, Sharma R, Munjewar P, More V.   +4 more
europepmc   +1 more source

A 17-year-old boy with hemifacial flushing and anhidrosis. [PDF]

JAAD Case Rep
Farinha PS, Ferreirinha A, Vilela B, Duarte B.   +3 more
europepmc   +1 more source

HYPOHIDROSIS

Skin research, 1968
openaire   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

J Med Case Rep
Ahmadkhani A, Taherifard E, Zoghi S, Jafari Khamirani H, Ahmadkhani M, Dastgheib SA.   +5 more
europepmc   +1 more source

Interpretation of cardiac magnetic resonance imaging of left ventricular hypertrophy: a practical guide. [PDF]

Pol J Radiol
Amano Y, Tachi M, Suzuki Y.
europepmc   +1 more source