Results 141 to 150 of about 3,428 (220)

Can single stage surgery in Blepharophimosis syndrome be practiced universally?

Indian Journal of Ophthalmology, 2013
Ruchi Goel, Amit Goel
doaj   +1 more source

Delayed-Onset Type 1 Kounis Syndrome Caused Ventricular Fibrillation: A Case Report. [PDF]

Anatol J Cardiol
Cui H, Li Y, Liu Y.
europepmc   +1 more source

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

Plastic and Reconstructive Surgery, Global Open, 2018
Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD   +7 more
doaj   +1 more source

Editorial: The etiology and pathogenesis of craniomaxillofacial birth defects. [PDF]

Front Dent Med
Zhao H, Huang W, Liu H, Pan Y.
europepmc   +1 more source

Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion. [PDF]

J Med Cases
Soliman A, Schmidt J, Tobias JD, Smith A.   +3 more
europepmc   +1 more source

Blepharophimosis Syndrome- A Rare Case

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

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

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. [PDF]

HGG Adv
McGivern B, Holling T, Guillen Sacoto MJ, Gudbjartsson H, Abdelrazek IM, Alawi M, Bai Y, Bodamer O, Crunk A, Dameron AE, Dyer LM, Henderson LB, Irons M, Kutsche K, McGowan C, Monaghan KG, O'Connor K, Rashid A, Redlich OL, Reich A, Simotas C, Welner S, Wentzensen IM.   +22 more
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