Results 111 to 120 of about 242,527 (213)

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

Community Awareness of Congenital Talipes Equinovarus (Clubfoot) in Makkah Region, Saudi Arabia: A Cross-Sectional Study. [PDF]

open access: yesCureus, 2022
Alosaimi MA   +7 more
europepmc   +1 more source

Morphological and mechanical properties of fibrous tissue localized in congenital talipes equinovarus

open access: yes
Author's title and name: Mgr. David Vondrášek Institution: Charles University in Prague Faculty of Physical Education and Sport José Martího 269/31 Praha 6, 162 52, Česká republika Study programme: Biomechanics Thesis name: Morphological and mechanical ...
Vondrášek, David
core  

Facial features in children with idiopathic congenital talipes equinovarus.

open access: yes, 2009
We assessed whether there is a recognisable pattern of facial morphology in photographs of a series of 62 children with idiopathic congenital talipes equinovarus (CTEV).
Chesney D   +5 more
core  

The results of talipes equinovarus treated by ponseti technique

open access: yes, 2010
Tıpta Uzmanlık TeziAyağın doğumsal ve cerrahi dışı yöntemlerle düzeltilebilir bir deformitesi olan Talipes equinovarus `un tedavi görmemiş geç dönem sonuçları ayağın fonksiyonel anatomisini bozarak morbidite yaratmaktadır.
Dülger, Hakan
core   +1 more source

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

open access: yesZdravniški Vestnik, 2001
Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer   +4 more
doaj  

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