Results 151 to 160 of about 11,312 (165)

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia. [PDF]

Children (Basel)
Tofts L, Ireland P, Tate T, Raj S, Carroll T, Munns CF, Knipe S, Langdon K, McGregor L, McKenzie F, Zankl A, Savarirayan R.   +11 more
europepmc   +1 more source

Routine 36-week scan: diagnosis of fetal abnormalities. [PDF]

Ultrasound Obstet Gynecol
Syngelaki A, Mitsigiorgi R, Goadsby J, Hamed K, Akolekar R, Nicolaides KH.   +5 more
europepmc   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia. [PDF]

J Clin Invest
Angelozzi M, Molin A, Karvande A, Fernández-Iglesias Á, Whipple S, Bloh AM, Lefebvre V.   +6 more
europepmc   +1 more source

International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi study. [PDF]

Orphanet J Rare Dis
Boero S, Vodopiutz J, Maghnie M, de Bergua JM, Ginebreda I, Kitoh H, Langendörfer M, Leiva-Gea A, Malone J, McClure P, Mindler GT, Popkov D, Rodl R, Rosselli P, Verdoni F, Vilenskii V, Huser AJ.   +16 more
europepmc   +1 more source

Vosoritide therapy in children with achondroplasia under 5 years of age. [PDF]

Transl Pediatr
Kitoh H.
europepmc   +1 more source

Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT). [PDF]

Biomolecules
Guo Y, Charoenkwan P, Traisrisilp K, Piyamongkol W, Tongprasert F.   +4 more
europepmc   +1 more source

The Genetics of Chiari 1 Malformation. [PDF]

J Clin Med
Yan RE, Chae JK, Dahmane N, Ciaramitaro P, Greenfield JP.   +4 more
europepmc   +1 more source

The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research. [PDF]

Orphanet J Rare Dis
Gresky J, Frotscher M, Dorn J, Scheelen-Nováček K, Ahlbrecht Y, Jakob T, Schönbuchner T, Canalejo J, Ducke B, Petiti E.   +9 more
europepmc   +1 more source

Anesthetic dilemmas in an achondroplastic patient undergoing elective cesarean section. [PDF]

J Biomed Res
Brown A, Liu H, Chandler C.
europepmc   +1 more source