Results 121 to 130 of about 1,854 (192)

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review. [PDF]

Medicine (Baltimore)
Liu Y, Dong Y, Xu J, Xia B, Hu W, Li X, Wang F, Zhao Y, Feng G.   +8 more
europepmc   +1 more source

Identification and analysis of genes involved in skeletal dysplasias affecting growth and bone homeostasis [PDF]

, 2007
HELLEMANS, JAN
core  

Genetic Heterogeneity Underlying Familial Short Stature. [PDF]

Diagnostics (Basel)
Comel M, Barat-Houari M, Alkar F, Amouroux C, Prodhomme O, Ruiz N, Rondeau S, Wells CF, Pers YM, Geneviève D, Willems M.   +10 more
europepmc   +1 more source

Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report. [PDF]

Ital J Pediatr
Wang H, Wang J, Chen D.
europepmc   +1 more source

Unexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia. [PDF]

HGG Adv
Zhao XC, Zhang ZC, Ye WL, Ye YY, Wang LT, Zheng XQ, Chang YB, Chen C.   +7 more
europepmc   +1 more source

A Bumpy Ride Through a Turbulent Airway: But Not Always-A Case Report of Tracheobronchopathia Osteochondroplastica. [PDF]

J Investig Med High Impact Case Rep
Gaddam M, Tangutoori S, Gullapalli D, Ganti S, Hakim M, Matela A.   +5 more
europepmc   +1 more source

Case Report: Maribavir for refractory cytomegalovirus viremia after renal transplantation in a child with Schimke's immune-osseous dysplasia. [PDF]

Front Immunol
Huang JS, Wang HK, Rong LP, Jiang XY, Liu LS, Huang LY, Zhang N, Yue ZH.   +7 more
europepmc   +1 more source

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl. [PDF]

Mol Genet Genomic Med
Dalili S, Hoseini Nouri SA, Sharifi A, Bayat R, Talebi S, Savad S, Medghalchi N, Rabbani B, Mahdieh N.   +8 more
europepmc   +1 more source

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels. [PDF]

J Biol Chem
Gao J, Thompson ET, Nichols CG.
europepmc   +1 more source