Results 131 to 140 of about 1,143,678 (194)

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

P443: Blepharophimosis-intellectual developmental disorder syndrome: First reported case in Hispanic population

Genetics in Medicine Open
David Rodriguez, Luis Daniel Campos, Marisol Ibarra-Ramirez, Laura Martinez-De Villarreal   +3 more
doaj   +1 more source

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype. [PDF]

Front Med (Lausanne)
Wei X, Gao R, Xie R.
europepmc   +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

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

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype. [PDF]

J Hum Genet
Abdel-Hamid MS, Abdel-Salam GMH.
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