Results 131 to 140 of about 4,117 (196)

A Case Report of Bart Syndrome with Brachydactyly of the Great Toe: A Rare Entity. [PDF]

Clin Cosmet Investig Dermatol
Kim EH, Son SW, Yoon SA, Lee JY.
europepmc   +1 more source

Topical gene therapy for severe recessive dystrophic epidermolysis bullosa: clinical outcomes and multidisciplinary management in three patients treated with beremagene geperpavec (B-VEC) in Italy - a case series. [PDF]

Drugs Context
Brena M, Guez S, Lospalluti L.
europepmc   +1 more source

Single-cell transcriptomics profiling elucidates RBP-driven metastatic signaling pathways in ER⁺ breast cancer. [PDF]

iScience
Dong M, Li X, Yang S, Li S, Liu Z, Peng C, Li R, Liang W, Li X, Bai J.   +9 more
europepmc   +1 more source

Leveraging Whole-Exome Sequencing to Decipher the Genetic Landscape of Three Genodermatoses' Cases in Middle Eastern Pediatric Patients. [PDF]

Genes (Basel)
Kadhi A, Akl PA, Abbas O, El-Tayar E, Nemer G, Kurban M.   +5 more
europepmc   +1 more source

Developing CRISPR-Based Therapies for Epidermolysis Bullosa: A Comprehensive Review of Current Strategies. [PDF]

Drugs
du Rand A, Buttle B, Sheppard H.
europepmc   +1 more source

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant

Anais Brasileiros de Dermatologia
Patrícia Amoedo, Ana Grangeia, Lígia Peralta, Alberto Mota   +3 more
openaire   +3 more sources

Epidermolysis bullosa pruriginosa: A retrospective cohort study highlighting secondary cutaneous amyloidosis and response to Janus kinase inhibition. [PDF]

JAAD Int
Hou PC, Cheng HC, Wu CL, Yang CC, Chao SC, Lee JY, Hsu CK.   +6 more
europepmc   +1 more source

Clinical and molecular spectrum of inherited epidermolysis bullosa in a Thai cohort: A 12-year retrospective study. [PDF]

JAAD Int
Supsrisunjai C, Tirachaimongkol N, Bunnag T, Sengtae N, Tongsima S, Ngamphiw C, Komkhong W, Kootiratrakarn T, Wessagowit V, Kantaputra P.   +9 more
europepmc   +1 more source

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source

Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease. [PDF]

J Neurol
Guyler SK, Alfayyadh MM, Maksemous N, Lea RA, Smith RA, Sutherland HG, Griffiths LR.   +6 more
europepmc   +1 more source