Results 121 to 130 of about 1,143,678 (194)

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

Nabais Sá-de Vries Syndrome Type 1 in a Mexican Girl: A Case Report. [PDF]

Cureus
Olivares-Huerta O, Castro-Coyotl DM, Crisanto-López IE, Cervantes-Larios J, Ochoa-Precoma R, Morales-López BF, Trejo-Toscano IA, Juárez-Melchor D.   +7 more
europepmc   +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

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

Spectral cardiac CT in type 1 Kounis syndrome presenting as myocardial infarction with non-obstructive coronary arteries following anaphylactic shock. [PDF]

Radiol Case Rep
Hamrouni H, Alam W, Brahim LI, Hamrouni H, Boughanmi N, Moini C, Choneva I.   +6 more
europepmc   +1 more source

A Novel MAF Variant Causing Aymé-Gripp Syndrome With Transient Anemia. [PDF]

Congenit Anom (Kyoto)
Hara M, Morisawa T, Hasegawa D, Nozu K, Morisada N.   +4 more
europepmc   +1 more source

Reply to the Letter to the Editor: "Comment on '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

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

Anatol J Cardiol
Cömert AD, Şentürk N.
europepmc   +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

The Allergic Heart That Falls Apart: Type 1 Kounis Syndrome Following Concomitant Diclofenac and Ondansetron Intake. [PDF]

Cureus
Jain K, Karmegam G, Manohar M, Paul AJ, Adalarasan S.   +4 more
europepmc   +1 more source