Results 101 to 110 of about 2,305 (172)

A Case of Acquired Idiopathic Generalized Anhidrosis with Anti-mucin 7 Seropositivity

Acta Dermato-Venereologica
Marie Kitamura, Kazuki M. Matsuda, Hirohito Kotani, Ayumi Yoshizaki, Shinichi Sato   +4 more
doaj   +1 more source

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]

Dermatopathology (Basel)
Süßmuth K, Oji V, Bodes J, Jochum I, Muhs F, Komlosi K, Hausser I, Schmuth M, Traupe H, Fischer J, Metze D.   +10 more
europepmc   +1 more source

Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation. [PDF]

Genes (Basel)
Marcella S, Sirica R, Petrillo N, Ianniello M, Mori A, Castiello R, Capone SF, Evangelista E, Suero T, Ruggiero R, Columbro A, Barone A, Malandrenis I, Fico A, Savarese G.   +14 more
europepmc   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights. [PDF]

BMC Med Genomics
Nejati P, Khosravi T, Lorestani S, Oladnabi M.   +3 more
europepmc   +1 more source

Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report. [PDF]

Int J Clin Pediatr Dent
Jangili B, Jampanapalli SR, Patloth T, Gudipati M.   +3 more
europepmc   +1 more source

Epidemiology of autonomic dysfunction in Parkinson's disease (Review). [PDF]

Med Int (Lond)
Rissardo JP, Gadelmawla AF, Khalil I, Abdulgadir A, Bhatti KS, Fornari Caprara AL.   +5 more
europepmc   +1 more source

Oligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature. [PDF]

Case Rep Dent
Malami AB, Ogbozor BE, Okolo CC, Aborisade AO, Mahmud UB, Abulfathi AA, Adeyemo YI.   +6 more
europepmc   +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 Dis
Kügler C, Witt S, Hammersen J, Quitmann J, Schneider H.   +4 more
europepmc   +1 more source