The Turkish Journal of Pediatrics
Smilar Issues: 12 Record Found
Chromosomal abnormalities in 457 Turkish patients with MCA/MR
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Maternal origin and clinical findings in a case with trisomy 22
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Angelman syndrome: clinical findings and follow-up data of 14 patients
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Subtelomeric Rearrangements of Dysmorphic Children with Idiopathic Mental Retardation Reveal 8 Different Chromosomal Anomalies
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Kabuki make-up syndrome with unilateral renal agenesis
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Subtelomeric Rearrangements in Mental Retardation: Hacettepe University
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Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report
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A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly
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A Case of Mowat-Wilson Syndrome Caused by a Truncating Mutation within Exon 8 of the ZEB2 Gene
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A Case of Sotos Syndrome with 5q35 Microdeletion and Novel Clinical Findings
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An unusual presentation of cardiomyopathy in a patient with microcephaly-cardiomyopathy syndrome
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Three Cases of a Rare Disease, Congenital Chloride Diarrhea, Summons Up the Variation in the Clinical Course and Significance of Early Diagnosis and Adequate Treatment in the Prevention of Intellectual Disability
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