Results 101 to 110 of about 168,602 (136)

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review. [PDF]

Ital J Pediatr
Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C.   +4 more
europepmc   +1 more source

A preterm neonate with infantile liver failure syndrome 1 due to leucyl-tRNA synthetase 1 gene (<i>LARS1</i>) mutations with a histopathologic phenotype of neonatal hemochromatosis. [PDF]

JPGN Rep
Bruder A, Laventhal N, Rabah R, Meadow J.   +3 more
europepmc   +1 more source

A case of spherophakia-induced angle closure and retinal dysfunction in association with Klinefelter syndrome. [PDF]

BMC Ophthalmol
Zhao Y, Tong Y, Jin L, Hu R, Wang X.
europepmc   +1 more source

Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India. [PDF]

Cureus
Sahoo S, Tripathy BB, Tripathy PR, Narayan RK, Kumar KP, Gaikwad MR.   +5 more
europepmc   +1 more source

Applications of Optical Coherence Tomography in Optic Nerve Head Diseases: A Narrative Review. [PDF]

Diagnostics (Basel)
Khodeiry MM, Colvin E, Ayoubi M, Mendoza X, Kostic M.   +4 more
europepmc   +1 more source

Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions. [PDF]

World J Clin Pediatr
Goyal S, Tibrewal S, Ratna R, Vanita V.
europepmc   +1 more source

Epigenetic, Genetic, and Functional Germline Alterations of <i>PAX</i> Genes in Human Pathology: A Comprehensive Update. [PDF]

Curr Issues Mol Biol
Gomez VL, Wegner S, Ocejo S, Perez D, Jabbour D, Fernandez V, Abulaban A, Bahmad M, Elajami TK, Abou-Kheir W, Bahmad HF.   +10 more
europepmc   +1 more source

The first reported case of entropion and surgical correction in a snow leopard cub (<i>Panthera uncia</i>). [PDF]

Open Vet J
Dey J, Gupta P, Holeyachi BS.
europepmc   +1 more source

Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum. [PDF]

Hum Genomics
Ma T, Liu J, Wang Y, Zhu H, Qin Y, Liu R, Yuan H, Ye B, Hua R, Li S, Xi H, Wang J, Li N.   +12 more
europepmc   +1 more source

A Case Series of Familial Macular Drusen: Clinical, Imaging, and Diagnostic Considerations in the Spectrum Between Age-Related Macular Degeneration (AMD) and Other Macular Disorders. [PDF]

Cureus
Faustine G, Bastion MC.
europepmc   +1 more source