Results 111 to 120 of about 2,580 (168)

Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome. [PDF]

EBioMedicine
Tsang E, Han VX, Flutter C, Alshammery S, Keating BA, Williams T, Gloss BS, Graham ME, Aryamanesh N, Pang I, Wong M, Winlaw D, Cardamone M, Mohammad S, Gold W, Patel S, Dale RC.   +16 more
europepmc   +1 more source

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant. [PDF]

Mol Syndromol
Kablan A, Aru EE.
europepmc   +1 more source

Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome. [PDF]

Brief Bioinform
Cuvertino S, Garner T, Martirosian E, Walusimbi B, Kimber SJ, Banka S, Stevens A.   +6 more
europepmc   +1 more source

Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Li Q, Zheng Y, Guo X, Xue J.
europepmc   +1 more source

Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus. [PDF]

Endocrinol Diabetes Metab Case Rep
Chew Sue Mei S, Pritchard N, Grayton H, Simonicova I, Park SM, Adler AI.   +5 more
europepmc   +1 more source

Desipramine reverses remote memory deficits by activating calmodulin-CaMKII pathway in a UTX knockout mouse model of Kabuki syndrome. [PDF]

Gen Psychiatr
Chen L, Li Y, Liu M, Lan Z, Zhang X, Yang X, Zhao Q, Wang S, Xu L, Zhou Y, Kuang Y, Suzuki T, Tabuchi K, Takahashi E, Zhou M, Chen CD, Xu T, Li W.   +17 more
europepmc   +1 more source

Primary CNS Burkitt Lymphoma Presenting as Sudden Bilateral Blindness in a Patient With Underlying Kabuki Syndrome: A Case Report. [PDF]

Cureus
Alghamdi AH, Alzahrani M, Kamal YF, Aljehani R, Ibrahim IA, Alqahtani AS.   +5 more
europepmc   +1 more source

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice. [PDF]

Genome Res
Boukas L, Luperchio TR, Razi A, Hansen KD, Bjornsson HT.   +4 more
europepmc   +1 more source

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the <i>KMT2D</i> Gene. [PDF]

Mol Syndromol
Gatsis A, Alvanou M, Christidou E, Demertzidou E, Kontou A, Stathopoulou T, Sarafidis K, Sotiriadis A, Ververi A.   +8 more
europepmc   +1 more source

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study. [PDF]

BMC Pediatr
Wang Y, Xu Y, Chen Y, Hu Y, Li Q, Liu S, Wang J, Wang X.   +7 more
europepmc   +1 more source