Results 91 to 100 of about 9,163 (169)

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad. [PDF]

Medicine (Baltimore)
Al-Bustanji R, AlRababah BK, Rumman MSA, Abukhaled Y, Al-Rabadi N, Younis HKB, Ghalyon G, Al-Tawalbeh S, Aloudat O, Alrashdan MMM, Yamin MT, Maaita M, Salah AKD, Satari A.   +13 more
europepmc   +1 more source

A Mild Phenotype of Nonsyndromic Epidermal Differentiation Disorder in a Compound Heterozygous Patient With a Novel NIPAL4 Frameshift Variant (p.Ser231Argfs*4). [PDF]

J Dermatol
Tanaka H, Yamamura K, Tanahashi K, Noda T, Takeichi T, Akiyama M, Dainichi T.   +6 more
europepmc   +1 more source

Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria. [PDF]

Ann Med Surg (Lond)
Jazmati A, Al-Jawad M, Khalaf F, Alhakim N, Almohamad S, Bardizbanian R, Ahdali R, Ishkanian S.   +7 more
europepmc   +1 more source

Identification of Pathogenic Variants in <i>CYP4F22</i>, <i>FLG</i>, <i>ALOX12B</i>, and <i>NIPAL4</i> in a Case Series of Inherited Ichthyosis. [PDF]

Int J Mol Sci
Sattar MA, Zaib AA, Abbasi H, Abideen MZU, Riazuddin S, Ahmed ZM, Naeem M.   +6 more
europepmc   +1 more source

Age-Related Differences in Anti-Glomerular Basement Membrane Disease: Distinct Biology or Distinct Timing of Presentation? [PDF]

Kidney Int Rep
Upadhyay P, Upadhyay A.
europepmc   +1 more source

Comment on: Clinical characteristics, risk factor analysis, and outcomes of graft rejection after Descemet membrane endothelial keratoplasty. [PDF]

Indian J Ophthalmol
Sah SS, Kumbhalwar A.
europepmc   +1 more source

Congenital Bilateral Ectropion in Collodion Infants: A Case Series. [PDF]

Cureus
Karn MK, Kusumesh R, Bhaskar G, Adhikari A.   +3 more
europepmc   +1 more source

Molecular Equilibrist: The Small Heat Shock Protein IbpA from Mycoplasma. [PDF]

Biomolecules
Vishnyakov IE, Vedyaykin AD.
europepmc   +1 more source

Ectropion of upper lids in a collodion baby

Indian Journal of Ophthalmology. Case Reports
Anjana D R Warrier
doaj   +1 more source

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing. [PDF]

Cureus
Phipps J, Popescu O.
europepmc   +1 more source