Results 121 to 130 of about 3,538 (198)

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 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

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

A Mild Phenotype of Nonsyndromic Epidermal Differentiation Disorder in a Compound Heterozygous Patient With a Novel NIPAL4 Frameshift Variant (p.Ser231Argfs*4). [PDF]

J Dermatol
Tanaka H, Yamamura K, Tanahashi K, Noda T, Takeichi T, Akiyama M, Dainichi T.   +6 more
europepmc   +1 more source

Newborn screening for Fabry disease in Japan: an additional 3-year report. [PDF]

Mol Genet Metab Rep
Sawada T, Kido J, Sugawara K, Yoshida S, Inoue T, Hirose S, Nakamura K.   +6 more
europepmc   +1 more source

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report. [PDF]

Front Pediatr
Tang Z, Xu F, Zhang P, Zhang J, Kang X, Zhao H.   +5 more
europepmc   +1 more source

Cutaneous manifestations of Fabry disease: A systematic review. [PDF]

J Dermatol
Al-Chaer RN, Folkmann M, Mårtensson NL, Feldt-Rasmussen U, Mogensen M.   +4 more
europepmc   +1 more source

Clinical Spectrum and Genetic Variability in Ectodermal Dysplasia-Skin Fragility Syndrome. [PDF]

Indian Dermatol Online J
Gupta M, Sharma A, Chatterjee D, Vinay K.   +3 more
europepmc   +1 more source

Fabry Disease: Integrating Molecular Pathophysiology, Precision Diagnosis, and Artificial Intelligence Toward Precision Medicine. [PDF]

Cells
Biddeci G, Spinelli G, Colomba P, Anania M, Duro G, Di Blasi F.   +5 more
europepmc   +1 more source

Type 2 Lepra Reaction Following Antituberculosis Treatment Initiation in an Elderly Male With Coexisting Hansen's Disease: A Case Report. [PDF]

Respirol Case Rep
Villanueva CAG, Ortiz YRH, Mojica WP, Albay AB.   +3 more
europepmc   +1 more source