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Une cause congénitale de douleur dans le dos et dans les jambes
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Aangeboren oorzaak van pijn in de rug en benen
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Identification of a novel COL1A1 mutation associated with Caffey disease
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Stickler syndrome: comprehensive clinical and molecular analysis
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Focal growth disturbances
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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Klippel-Feil syndrome
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Disfluency: it is not always stuttering
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations