Results 121 to 130 of about 2,641 (162)

Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders. [PDF]

BMC Pediatr
Chen R, Wu D, Zhang J, Dai Y, Xia D, Chen M, Li X, Liu Q, Chen Y, Li R.   +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

A Retrospective Analysis of the Efficacy of Silicone Sling in the Management of Severe Congenital Ptosis. [PDF]

Cureus
Thacker P, Agarwal R, Rastogi A, Joon A, Agarwal H, Aggarwal P.   +5 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

Mutation analysis of the <i>FOXL2</i> and <i>BMP15</i> genes in patients with premature ovarian insufficiency. [PDF]

Turk J Obstet Gynecol
Mutlu MB, Topçu V, Çetinkaya ŞE, Üstün Y, Bakır A, Atabekoğlu CS, Ruhi HI, Karabulut HG.   +7 more
europepmc   +1 more source

Incidentally detected double-chambered right ventricle in an adult. [PDF]

Radiol Case Rep
Saliba T, Rotzinger D, Fahrni G, Thoma P.   +3 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

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review. [PDF]

Clin Genet
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T.   +21 more
europepmc   +1 more source