Results 101 to 110 of about 2,580 (168)

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome. [PDF]

J Endocr Soc
Rosenfeld E, Mitteer LM, Boodhansingh K, Sanders VR, McKnight H, De Leon DD.   +5 more
europepmc   +1 more source

Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome. [PDF]

Front Genet
Li W, Lin M, Dao J, Shi L, Yi W, Lei J, Song Y, Dong J, Zhao M, Xu Y, Chen L.   +10 more
europepmc   +1 more source

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China. [PDF]

Eur J Pediatr
Wang Y, Hu F, Xu X, Tan J, Yu T, Li N, Li Q, Chen Y, Chang G, Ma X, Yu D, Wang X.   +11 more
europepmc   +1 more source

Diazoxide-related Hyperglycemic Hyperosmolar State in a Child With Kabuki Syndrome. [PDF]

JCEM Case Rep
Kahlon H, Stanley JR, Lineen C, Lam C.
europepmc   +1 more source

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome. [PDF]

Diagnostics (Basel)
Lee CL, Chuang CK, Chen MR, Lin JL, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP.   +9 more
europepmc   +1 more source

Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome. [PDF]

Genet Med Open
Agustsson VI, Bjornsson PA, Fridriksdottir A, Bjornsson HT, Ellingsen LM.   +4 more
europepmc   +1 more source

Kabuki syndrome: A rare clinical presentation

Annals of Indian Academy of Neurology, 2020
openaire   +3 more sources

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review. [PDF]

Front Genet
Boniel S, Krajewska M, Pyrżak B, Paluchowska M, Majcher A, Zarlenga M, Krenke K, Śmigiel R, Jeziorek A, Szymańska K, Szczałuba K.   +10 more
europepmc   +1 more source

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome. [PDF]

Sci Rep
Hennocq Q, Willems M, Amiel J, Arpin S, Attie-Bitach T, Bongibault T, Bouygues T, Cormier-Daire V, Corre P, Dieterich K, Douillet M, Feydy J, Galliani E, Giuliano F, Lyonnet S, Picard A, Porntaveetus T, Rio M, Rouxel F, Shotelersuk V, Toutain A, Yauy K, Geneviève D, Khonsari RH, Garcelon N.   +24 more
europepmc   +1 more source