Results 151 to 160 of about 184,621 (397)
A Case Report of Marfan Syndrome with Literature Review [PDF]
, 2015 Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients
Kalla, H. K. (Hemanth) +5 more
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Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, EarlyView.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková +26 more
wiley +1 more source
Skeletal malformations among the Clarias species from fish mongers in Ekiti State [PDF]
, 2011 Clarias species purchased from fish mongers from Ado – Ekiti, Ikun Ekiti, Itapaji – Ekiti Nigeria were examined for possible deformities in any part of their body.
Fagbuaro , Omotayo, Oso, James Abayomi
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Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
Pengaruh Pemberian Terapi Latihan Metode Schroth Terhadap Skoliosis Pada Usia 10-12 Tahun Di Sekolah Dasar Negeri 1 Blulukan [PDF]
, 2015 Background: Scoliosis is a sideways aberration of spine which is a deformity (deviation) of a disease that can be caused by nonstructural and structural. This scoliosis is usually forming “C” or “S” curve.
, Dwi Kurniawati, SSt.FT +2 more
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Discussion on The Use of Remedial Exercises as Applied to Scoliosis [PDF]
, 1922 B. E. Lambert
openalex +1 more source
Journal of the Royal Society of Medicine, 1983 D J Pereira Gray, Jon G Mclennan
openaire +4 more sources
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
Clinical Genetics, EarlyView.We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti +17 more
wiley +1 more source