The Turkish Journal of Pediatrics
Smilar Issues: 14 Record Found
Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract Abstract Similar Articles Mail to Editor Hypertension in Children (12–14 Years) – A Case–Control Study in Bursa, Turkey Abstract Similar Articles Mail to Editor Metabolic Cataract in an 8-Year-Old Diabetic Boy Abstract Similar Articles Mail to Editor A Novel OCRL1 Gene Mutation in a Turkish Child with Lowe Syndrome Abstract Similar Articles Mail to Editor Selective Proximal Renal Tubular Involvement and Dyslipidemia in Two Cousins with Oculocerebrorenal Syndrome of Lowe Abstract Similar Articles Mail to Editor Bilateral Congenital Cataracts in an Infant with Klinefelter Syndrome Abstract Similar Articles Mail to Editor A novel mutation in a case of pseudohypoparathyroidism type Ia Abstract Similar Articles Mail to Editor p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency Abstract Similar Articles Mail to Editor A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis Abstract Similar Articles Mail to Editor Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations Abstract Similar Articles Mail to Editor Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix Abstract Similar Articles Mail to Editor Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings Abstract Similar Articles Mail to Editor Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene Abstract Similar Articles Mail to Editor Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant Abstract Similar Articles Mail to Editor
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