Results 131 to 140 of about 1,007 (198)

Identification of a novel, pathogenic <i>CREBBP</i> variant in a patient with Menke-Hennekam syndrome: a Case Report. [PDF]

open access: yesFront Genet
Anastasiou AΜ   +10 more
europepmc   +1 more source

Outcomes of Eye Examination and Vision Screening in Term Infants Presenting to a Tertiary Hospital in Türkiye. [PDF]

open access: yesTurk J Ophthalmol
Zorlutuna Kaymak N   +5 more
europepmc   +1 more source

Whole exome sequencing enables the correct diagnosis of Frank-Ter Haar syndrome in a Saudi family. [PDF]

open access: yesVavilovskii Zhurnal Genet Selektsii
Khan YN   +4 more
europepmc   +1 more source

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report. [PDF]

open access: yesMol Syndromol
de Freitas Netto F   +4 more
europepmc   +1 more source

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