Results 121 to 130 of about 3,419 (204)

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

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

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

A rare encounter: Navigating airway challenges in Van den Ende-Gupta syndrome. [PDF]

J Anaesthesiol Clin Pharmacol
Jha S, Ayub A, Ashwin M, Vignesh V.
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

Kounis Syndrome: An Entity One Should Not Forget. [PDF]

Cureus
Paulo J, Marto D, Figueiredo F, Oliveira J, Costa M.   +4 more
europepmc   +1 more source

Blepharophimosis syndrome: An atypical case [PDF]

Eye, 1994
S Sandramouli, S M Betharia
openaire   +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

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

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation. [PDF]

Hum Genomics
Shen B, Chen X, Zhu X, Chen Z, Fang Y, Dai Q, Li X, Xie Q, Wu W, Wang M.   +9 more
europepmc   +1 more source