A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights. [PDF]
BMC Med GenomicsNejati P +3 more
europepmc +1 more source
From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]
JACC Case RepKalaria A +4 more
europepmc +1 more source
Oligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature. [PDF]
Case Rep DentMalami AB +6 more
europepmc +1 more source
Epidemiology of autonomic dysfunction in Parkinson's disease (Review). [PDF]
Med Int (Lond)Rissardo JP +5 more
europepmc +1 more source
Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report. [PDF]
Int J Clin Pediatr DentJangili B +3 more
europepmc +1 more source
A Case of Acquired Idiopathic Generalized Anhidrosis with Anti-mucin 7 Seropositivity
Acta Dermato-VenereologicaMarie Kitamura +4 more
doaj +1 more source
Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure. [PDF]
Orphanet J Rare DisKügler C +4 more
europepmc +1 more source
Recurrence of Fabry's disease in a renal allograft 14 years after transplantation [PDF]
, 2017 Binswanger, U. +4 more
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