13 Artículos
Original Article
Acceso abierto | 31 dic 2018
Investigation of circulating serum microRNA-328-3p and microRNA-3135a expression as promising novel biomarkers for autism spectrum disorder
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Acceso abierto | 31 dic 2018
Determining specific thyroid transcripts in peripheral blood: A single center study experience
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Acceso abierto | 31 dic 2018
The frequency of EGFR And KRAS mutations in the Turkish population with non-small cell lung cancer and their response to erlotinib therapy
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Acceso abierto | 31 dic 2018
Epigenetic signature of chronic maternal stress load during pregnancy might be a potential biomarker for spontaneous preterm birth
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Case Report
Acceso abierto | 31 dic 2018
Characteristic diagnostic clues of metatropic dysplasia: The lumbothoracic humpback with dumbbell appearance of the long bones
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Acceso abierto | 31 dic 2018
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
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Acceso abierto | 31 dic 2018
Next generation sequencing identified a novel multi exon deletion of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1
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Acceso abierto | 31 dic 2018
The role of next generation sequencing in the differential diagnosis of caroli’s syndrome
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Acceso abierto | 31 dic 2018
A novel mutation in a newborn baby leading to glycogen storage disease type Ia
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Acceso abierto | 31 dic 2018
Rare case of a heterozygous microdeletion 9q21.11-q21.2: Clinical and genetic characteristics
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Acceso abierto | 31 dic 2018
A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability
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Acceso abierto | 31 dic 2018
Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)
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Acceso abierto | 31 dic 2018
A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure
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