Results 81 to 90 of about 1,134,764 (129)

Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins. [PDF]

Dermatopathology (Basel)
Metze D, Süßmuth K, Metze C, Oji V, Traupe H.   +4 more
europepmc   +1 more source

Carney complex: a case report of bilateral breast myxoid fibroadenomas. [PDF]

Case Reports Plast Surg Hand Surg
Savva D, Vassiliou A, Theophanous E, Loizou M, Yiallourou A.   +4 more
europepmc   +1 more source

Naxos Disease: The Model for Scientific Discovery. [PDF]

Int J Trichology, 2020
Yesudian R, Yesudian P, Yesudian P.
europepmc   +1 more source

Presentations of Cutaneous Disease in Various Skin Pigmentations: Keratosis Pilaris. [PDF]

HCA Healthc J Med
Lim H, Ayoub R, Richards M, Hall M, Scheufele C, Carletti M, Weis SE.   +6 more
europepmc   +1 more source

A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases. [PDF]

iScience
Pérez-García J, García-Criado F, Pazos F, Chagoyen M, Rojano E, Seoane P, Ranea JAG.   +6 more
europepmc   +1 more source

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report. [PDF]

Cureus
Premkumar L, Preethi P S, Swaminathan A, Sundaram M.   +3 more
europepmc   +1 more source

Selected Vascular, Inflammatory, and Lipid Parameters in Patients with Selected Keratinization Disorders: Preliminary Data from a Retrospective Observational Study. [PDF]

J Clin Med
Pietrzak A, Kęsik J, Mlak R, Wertheim-Tysarowska K, Matosiuk D, Wawrzycki B.   +5 more
europepmc   +1 more source

Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases. [PDF]

Sci Rep
Badowski C, Benny P, Verma CS, Lane EB.
europepmc   +1 more source

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy. [PDF]

JACC Case Rep
Giannoni A, Modena M, Montuoro S, Bonanni F, Grigoratos C, Barison A, Todiere G, Rossi A, Vittorini S, Emdin M, Botto N.   +10 more
europepmc   +1 more source

Imaging Naxos disease and related cardiocutaneous syndromes: the NAXCARE multimodality approach

Hellenic Journal of Cardiology
Ioannis Protonotarios, Hani Alsergani, Aris Anastasakis, Alexis Antonopoulos, Elzbieta Katarzyna Biernacka, Karolina Borowiec, Eduardo Bossone, Andreina Carbone, Carlo Cavaliere, Anna d'Agostino, Georgios Efthimiadis, Monica Franzese, Thomas Gossios, Alexandros Kasiakogias, Themis Katsimihas, George Lazaros, Emilia Lazarou, Giuseppe Limongelli, William J. McKenna, Antigoni Miliou, Eva Nyktari, Despoina Parcharidou, Valeria Pergola, Efi Prappa, Alexandros Protonotarios, Salvatore Rega, Angelos Rigopoulos, Charalambos Vlachopoulos, Zafeirenia Xylouri, Lidia Ziółkowska, Adalena Tsatsopoulou   +30 more
openaire   +1 more source