Results 121 to 130 of about 7,052 (205)

Case report: Exotropia in waardenburg syndrome with novel variations. [PDF]

Front Genet, 2022
Huang L, Guo M, Li N.
europepmc   +1 more source

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome. [PDF]

BMC Med Genomics, 2022
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J.   +7 more
europepmc   +1 more source

Rhegmatogenous Retinal Detachment in Waardenburg Syndrome: A Case Report. [PDF]

Korean J Ophthalmol, 2022
Shin J, Lee EK.
europepmc   +1 more source

A novel frameshift variant of <i>PAX3</i> in a Chinese Yugur family with Waardenburg syndrome type 1. [PDF]

Front Genet
Zhan L, Xu B, Lin D, Wang Y, Bian P.
europepmc   +1 more source

Bilateral cochlear implantation in a child with Waardenburg syndrome: A case report. [PDF]

Front Pediatr, 2022
Wang X, Xu L, Zhang N, Zhao Y.
europepmc   +1 more source

Association of Waardenburg syndrome with a new mutation in the <i>PAX3</i> gene: A case report and literature review. [PDF]

Biomed Rep
Zafiri J, Papageorgiou E, Pampanos A, Valla O, Sotiriou S, Papaioannou GK, Psarris A, Siomou E, Manolakos E.   +8 more
europepmc   +1 more source

Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome. [PDF]

Mol Syndromol, 2023
Roudbari F, Dallal Amandi AR, Bonyadi M, Sadeghi L, Jabbarpour N.   +4 more
europepmc   +1 more source

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization. [PDF]

Int J Mol Sci
Gombojav B, Erdenechuluun J, Batsaikhan T, Danshiitsoodol N, Makhbal Z, Jargalmaa M, Jargalkhuu T, Lu YS, Lin PH, Hsu JS, Tsai CY, Wu CC.   +11 more
europepmc   +1 more source

Perioperative Care of a Patient With Waardenburg Syndrome. [PDF]

J Med Cases, 2021
Holbrook M, Tobias JD.
europepmc   +1 more source

Waardenburg Syndrome [PDF]

, 2020
openaire   +1 more source