Results 121 to 130 of about 3,428 (220)

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

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up [PDF]

, 2014

core   +1 more source

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

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype. [PDF]

Front Med (Lausanne)
Wei X, Gao R, Xie R.
europepmc   +1 more source

Functional analysis of 6 variations in <i>FOXL2</i>. [PDF]

SAGE Open Med
Wang Y, Wu Q, Zhou Y, Liu W, Cao W, Fan Y, Li N.   +6 more
europepmc   +1 more source

Corrigendum: 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

Blepharophimosis syndrome: An atypical case [PDF]

Eye, 1994
S Sandramouli, S M Betharia
openaire   +1 more source

Frontalis sling surgery - pediatric versus adult population: characteristics and outcomes. [PDF]

BMC Ophthalmol
Arnon R, Rosner M, Priel A, Sagiv O, Landau-Prat D, Rock O, Armanik S, Shalamaev Y, Arazi M, Zloto O.   +9 more
europepmc   +1 more source

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
Mortier, Geert, Nuytinck, Lieve, Craen, Margarita, Renard, Jean-Pierre, Leroy, Juliaan, De Paepe, Anne   +5 more
core   +2 more sources