Results 101 to 110 of about 12,084,964 (131)

Unraveling the complexity of skeletal dysplasias in the national health system. [PDF]

Front Endocrinol (Lausanne)
Najjar D, Maver A, Peterlin A, Jaklič H, Peterlin B.   +4 more
europepmc   +1 more source

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA. [PDF]

Int J Mol Sci
Ago Y, Khan S, Klipner K, Bradford A, Tomatsu S.   +4 more
europepmc   +1 more source

Review of published 467 achondroplasia patients: clinical and mutational spectrum. [PDF]

Orphanet J Rare Dis
Zhang X, Jiang S, Zhang R, Guo S, Sheng Q, Wang K, Shan Y, Liao L, Dong J.   +8 more
europepmc   +1 more source

From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments. [PDF]

Children (Basel)
Șerban RC, Mitut-Veliscu A, Dumitra A, Marica L, Popescu C, Costache A, Teona Ș, Riza AL, Dirnu R, Varut RM, Streață I.   +10 more
europepmc   +1 more source

Xylosyltransferase-II deficiency rewires innate immune signaling and destabilizes polarization in human macrophages. [PDF]

Front Immunol
Witt A, Ly TD, Kühle M, Knabbe C, Faust-Hinse I.   +4 more
europepmc   +1 more source

Advances in the mechanism and therapies of achondroplasia. [PDF]

Genes Dis
Chen H, Zhang R, Jin M, Yang J, Chen L, Xie Y.   +5 more
europepmc   +1 more source

An early prenatal diagnosis of type III Pfeiffer syndrome: a case description. [PDF]

Quant Imaging Med Surg
Tie HX, Li TG, Xu FR, Wu WR, Ma B.
europepmc   +1 more source

Identification of a novel, pathogenic <i>CREBBP</i> variant in a patient with Menke-Hennekam syndrome: a Case Report. [PDF]

Front Genet
Anastasiou AΜ, Aristidou C, Theodosiou A, Kousoulidou L, Papaevripidou I, Alexandrou A, Evangelidou P, Sismani C, Tanteles GA, Sanoudou D, Eliopoulos AG.   +10 more
europepmc   +1 more source

Fetal Thigh Circumference Nomograms Across Gestational Ages: A Retrospective Study. [PDF]

J Pers Med
Gulino FA, Arcarese G, Incognito GG, Orlandi G, Gabrielli O, Lettieri A, Manzo L, Mazzarelli LL, Sica G, Di Meglio L, Di Meglio L, Tuscano A, Occhipinti S, Guida M, Di Meglio A.   +14 more
europepmc   +1 more source

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review. [PDF]

Indian J Radiol Imaging
S DD, Chandola S, Jain A, Gupta N, Kabra M, Jana M.   +5 more
europepmc   +1 more source