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