Results 131 to 140 of about 2,495 (204)

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

From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency. [PDF]

Int J Mol Sci
Abujaber R, Henry-Smith C, Sharma S.
europepmc   +1 more source

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant. [PDF]

Int J Mol Sci
Kim KH, Han JY, Park J, Cho JS.
europepmc   +1 more source

Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes. [PDF]

Mol Syndromol
Bizzari S, Mehawej C, Chouery E, Nair P, Corbani S, Lefranc G, El-Hayek S, Megarbane A.   +7 more
europepmc   +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

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

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

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

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