Results 81 to 90 of about 3,568 (145)

Commentary: Waardenburg syndrome: Genetics and ocular features. [PDF]

Indian J Ophthalmol, 2022
Chakraborty K, Moharana B.
europepmc   +1 more source

Vestibular Deficit in Patients with Waardenburg Syndrome. [PDF]

Biomedicines
Benifla M, Serey-Gaut M, Bois E, Jbyeh S, Teissier N, Elmaleh-Bergès M, Jonard L, Pingault V, Loundon N, Belhous K, Marlin S, Maudoux A.   +11 more
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

Long-Term Hearing, Language, and Educational Outcomes After Cochlear Implantation in Children With Waardenburg Syndrome. [PDF]

Cureus
Arai S, Tomioka R, Shirai K, Nishiyama N, Miyake K, Yano T, Tsukahara K.   +6 more
europepmc   +1 more source

Waardenburg syndrome type 1 with unilateral glaucoma. [PDF]

Indian J Med Res, 2022
Kavitha S, Gopalakrishna M.
europepmc   +1 more source

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

Front Genet, 2022
Huang L, Guo M, Li N.
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

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

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