Results 101 to 110 of about 10,294 (182)

Ocular Findings in Siblings With Alagille Syndrome: A Report of Two Cases. [PDF]

Cureus
Murati Calderon RA, Menendez Sepulveda JA, Izquierdo N.   +2 more
europepmc   +1 more source

Intraorbital optic nerve coloboma: Neurosurgical considerations from two rare cases. [PDF]

Surg Neurol Int
Fagundes W, Silva YP, Sach SA, Mello LGM, Dettoni JB, Rocha FV, Pomianoski BW, Saraiva FP.   +7 more
europepmc   +1 more source

Unilateral macular Coloboma: a rare finding. [PDF]

Oxf Med Case Reports
Moutei H, Bennis A, Chraibi F, Abdellaoui M, Benatiya I.   +4 more
europepmc   +1 more source

Unilateral optic disc coloboma with macular coloboma

Indian Journal of Ophthalmology - Case Reports
Pradeep K Panigrahi, Lolly Pattnaik
openaire   +1 more source

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane. [PDF]

BMC Ophthalmol
Meng B, Cui M, Ji A.
europepmc   +1 more source

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity. [PDF]

Cureus
Amanallah MR, Chraa M, Louhab N, Balili K.   +3 more
europepmc   +1 more source

Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous population. [PDF]

Front Genet
García-Montalvo IA, Matías-Pérez D, Ruiz-Sanginéz MJ, Zenteno JC.   +3 more
europepmc   +1 more source

<i>PAX2</i>-Associated Kidney Dysplasia and Podocyte Injury: 2 Faces of a Monogenic Disorder. [PDF]

Kidney Int Rep
Kohl S, Liebau MC.
europepmc   +1 more source

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review. [PDF]

BMC Pediatr
Wu J, Huang Z, Zhu B, Zou R, Tan Y, Yao W, Yang Y, Xiong T.   +7 more
europepmc   +1 more source