Results 141 to 150 of about 3,419 (204)

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report. [PDF]

J Med Case Rep
Davarnia B, Panahi M, Rahimi B, Anari H, Farajollahi R, Rodbaneh EA, Jeddi F.   +6 more
europepmc   +1 more source

Blepharophimosis Syndrome- A Rare Case

Journal of Medical Science And clinical Research, 2020
openaire   +1 more source

Advancing predictive, preventive, and personalized medicine in eyelid diseases: a concerns-based and expandable screening system through structural dissection. [PDF]

EPMA J
Cao J, You K, Xu P, Sun Y, Shao J, Zhou Y, Li H, Lou L, Miao Q, Ye J.   +9 more
europepmc   +1 more source

Responding to comments on "Astigmatism in Duane Retraction syndrome". [PDF]

BMC Ophthalmol
Khorrami-Nejad M, Akbari MR, Masoomian B, Mahmood HA, Daneshvar K, Majdi A.   +5 more
europepmc   +1 more source

Comment on: "Astigmatism in Duane Retraction Syndrome". [PDF]

BMC Ophthalmol
Farvardin H, Farvardin M.
europepmc   +1 more source

Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly. [PDF]

J Craniofac Surg
Shen Q, Zhao X, Ji Y, Chai P.
europepmc   +1 more source

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome. [PDF]

Front Genet
Zhao M, Meng X, Wang J, Wang T.
europepmc   +1 more source

Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report. [PDF]

Am J Ophthalmol Case Rep
Alzaben KA, Alshuhayb BS, Alsulaiman SM, Alenazi M, Alkhayyal MA.   +4 more
europepmc   +1 more source