Results 1 to 10 of about 3,428 (220)

Ritka genetikai betegségek klinikai és genetikai diagnosztikájában szerzett tapasztalataink a kelet-magyarországi régióban (2007-2013) [PDF]

, 2017
Balogh, Erzsébet, Balogh, István, Bessenyei, Beáta, Oláh, Éva, P. Szabó, Gabriella, Szakszon, Katalin, Ujfalusi, Anikó   +6 more
core   +1 more source

Single-stage surgery for Blepharophimosis syndrome

Indian Journal of Ophthalmology, 2013
Kasturi Bhattacharjee, Harsha Bhattacharjee, Ganesh Kuri, Zeenat Tajmin Shah, Nilutparna Deori   +4 more
doaj   +1 more source

A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management. [PDF]

BMC Ophthalmol
Al Khathami A, Al Ghamdi AH.
europepmc   +1 more source

Découverte d’un nouveau mécanisme de résistance innée contre le cytomégalovirus : L’union fait la force [PDF]

, 2006
Fodil, Nassima, Kielczewska, Agnieszka, Vidal, Silvia M.   +2 more
core   +1 more source

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. [PDF]

Invest Ophthalmol Vis Sci, 2023
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q.   +8 more
europepmc   +1 more source

Blepharophimosis, ptosis, and epicanthus inversus [PDF]

, 2015
De Baere, Elfride, Verdin, Hannah
core   +1 more source

BLEPHAROPHIMOSIS – PTOSIS EPICANTHUS INVERSUS SYNDROME (BPES)

Delhi Journal of Ophthalmology, 2010
Saurabh Kamal, Goel Ruchi, Sushil Kumar, Tiwari Bhawna, Dulgach Pratima   +4 more
doaj   +1 more source

Marcus-Gunn Jaw-Winking Phenomenon: A Case Report on Rare Oculofacial Synkinesis. [PDF]

Int Med Case Rep J
Alharthe AFH, Alghreeb HM, ALBalawi HB, ALAli NM.   +3 more
europepmc   +1 more source

Clinical heterogeneity of polish patients with KAT6B-related disorder. [PDF]

Mol Genet Genomic Med, 2023
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R.   +13 more
europepmc   +1 more source