Results 121 to 130 of about 6,674 (213)

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +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

Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population. [PDF]

Skin Health Dis
Somani V, Somani A, Annabathula A.
europepmc   +1 more source

Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis. [PDF]

Front Med (Lausanne)
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 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

Congenital Hypotrichosis in a Child [PDF]

Proceedings of the Royal Society of Medicine, 1933
openaire   +2 more sources

Importance of Different Parameters for Monitoring Dogs with <i>Leishmania infantum</i> Infections in a Non-Endemic Country. [PDF]

Pathogens
Kaempfle M, Dorsch R, Zablotski Y, Hartmann K, Bergmann M.   +4 more
europepmc   +1 more source

Epidermal barrier disorders and corneodesmosome defects [PDF]

, 2014
Marek Haftek
core   +1 more source

Hypotrichosis-deafness syndrome [PDF]

, 2020
openaire   +1 more source

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report. [PDF]

Dermatol Reports
Alwunais K, Alqahtani J, Aljalfan A, Alotaibi H.   +3 more
europepmc   +1 more source