Results 181 to 190 of about 3,192 (225)

"Real world" medical care of patients with Fabry disease by primary care physicians, internists or general practitioners. [PDF]

Cardiovasc Diagn Ther
Mayer O, Kaemmerer H, Ewert P, Freiberger A, Lagler FB, Regenbogen C, Trenkwalder T, von Scheidt F, Kurschat C, Freilinger S.   +9 more
europepmc   +1 more source

Chiari I malformation with syringomyelia: Exploring novel dermatological markers in pediatrics. [PDF]

Surg Neurol Int
Kundu S, Sarangi PK, Bano F, Das S, Tripathy SK.   +4 more
europepmc   +1 more source

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene. [PDF]

Front Pediatr
Melnik E, Sharova M, Kenis V, Morgul A, Zabnenkova V, Markova T.   +5 more
europepmc   +1 more source

Clozapine-induced cholinergic urticaria: a case report. [PDF]

Ther Adv Psychopharmacol
El Ouni Amami N, Ali-Diabacte H, Ateb S, Ben Rejeb H, Bellis A, Bellis R, Januel D, Bouaziz N.   +7 more
europepmc   +1 more source

The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant. [PDF]

Heliyon
Wu Y, Sun J, Zhang C, Ma S, Liu Y, Wu X, Gao Q.   +6 more
europepmc   +1 more source

Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria. [PDF]

Ann Med Surg (Lond)
Jazmati A, Al-Jawad M, Khalaf F, Alhakim N, Almohamad S, Bardizbanian R, Ahdali R, Ishkanian S.   +7 more
europepmc   +1 more source

Unilateral Sweating: A Case Study of Localized Unilateral Hyperhidrosis.

J Pharm Bioallied Sci
Vaid Z.
europepmc   +1 more source

Discovery and Functional analysis of a novelALPK1variant in ROSAH syndrome

Snelling T, Garnotel LO, Jeru I, Tusseau M, Cuisset L, Perlat A, Minard G, Benquey T, Maucourant Y, Wood NT, Cohen P, Ziegler A.   +11 more
europepmc   +1 more source