Results 111 to 120 of about 3,419 (204)

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [PDF]

, 2000
Craen, Margarita, De Paepe, Anne, Leroy, Juliaan, Mortier, Geert, Nuytinck, Lieve, Renard, Jean-Pierre   +5 more
core   +3 more sources

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

A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome. [PDF]

Front Neurosci
Zheng H, Zhang L, Li F.
europepmc   +1 more source

Blepharophimosis, ptosis, and epicanthus inversus [PDF]

, 2015
De Baere, Elfride, Verdin, Hannah
core   +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

Identification of copy number variants associated with BPES-like phenotypes [PDF]

core   +1 more source

Two Cases of Congenital Blepharophimosis [PDF]

Proceedings of the Royal Society of Medicine, 1925
openaire   +2 more sources

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome. [PDF]

Brain Sci
Harutyunyan L, D'Incal CP, Jansen AC, Meuwissen M, Van Dijck A, Kooy RF.   +5 more
europepmc   +1 more source

Blepharophimosis syndrome

Istanbul Bilim University Florence Nightingale Journal of Medicine, 2019
openaire   +2 more sources

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