Results 111 to 120 of about 10,016 (183)

Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant. [PDF]

Hum Genome Var
Iwaki T, Nishio Y, Takagi S, Fujii K, Fujimoto M, Sato E, Nakamura Y, Ieda D, Negishi Y, Hattori A, Ogi T, Saitoh S.   +11 more
europepmc   +1 more source

Successful Treatment of Two Rare Pediatric Keratinization Disorders with Secukinumab: Epidermolytic Ichthyosis and PRP-GPP Overlap. [PDF]

Psoriasis (Auckl)
Xu Q, Zhang J.
europepmc   +1 more source

Specific organelle targeting as a key step in epidermal lipid synthesis. [PDF]

Front Med (Lausanne)
Schratter M, Radner FPW.
europepmc   +1 more source

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery. [PDF]

Clin Cosmet Investig Dermatol
Ghaznavi A, Borooghani H, Pahlevan Sabagh A, Aghajanlou T.   +3 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

Tinea Corporis and Tinea Pedis Can Masquerade As Other Cutaneous Conditions in Decedents: Forensic Dermatology of Dermatophyte Infections. [PDF]

Cureus
Cohen PR, Hanson KF, Prahlow JA.
europepmc   +1 more source

Cutaneous Complications in Type 1 Diabetes: Influence of Smoking. [PDF]

Cureus
Afzal B, Ahmed SA, Ali M, Younes A, Farooq B, Balakrishnan L, Anwar A, Hashmi AA.   +7 more
europepmc   +1 more source

Autosomal recessive <i>ELOVL1</i>-related disorder presenting with severe neonatal cholestasis: A novel clinical feature? [PDF]

Mol Genet Metab Rep
Tsai AC, Lee HT, Sanchez B, Huang YR, Krysinski S, Zalan A, Falsey E.   +6 more
europepmc   +1 more source

Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings. [PDF]

Cureus
Almarzooqi S, Salvo F.
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