Results 111 to 120 of about 4,149 (222)

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

open access: yesBMC Pediatrics
Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies.
Jing Zheng   +5 more
doaj   +1 more source

Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele [PDF]

open access: yes, 2009
Alaee, Farhang   +8 more
core   +2 more sources

Centro de Estudos e Registo de Anomalias Congénitas: relatório 2000-2001 [PDF]

open access: yes, 2007
O Registo Nacional de Anomalias Congénitas é um instrumento de observação e vigilância de base populacional que recebe notificações de várias origens, principalmente dos Serviços de Obstetrícia e Neonatologia.
Braz, Paula   +3 more
core  

Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report [PDF]

open access: yes, 2009
Zoran S Gucev   +25 more
core   +1 more source

Revisión bibliográfica del pie equinovaro congénito infantil a propósito de un caso clínico con tratamiento precoz [PDF]

open access: yes, 2015
Treball Final de Grau de Podologia, Escola Universitària d'Infermeria, Universitat de Barcelona, curs: 2014-2015, Tutor: Germán Álvarez MartínezIntroducción: Existen diferentes sistemas de clasificación del pie equinovaro congénito que permiten la rápida
Manzano Abanades, Miriam
core  

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