Avances en la identificación etiológica del retraso mental

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Revista De Neurologia

• Publication date

  Unknown publication date

• Fields of study

  Not labeled

• Identifiers
  DOI 10.33588/RN.57S01.2013242
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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  2013cited by this paper
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  2013cited by this paper
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• Structural variation in subtelomeres.

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• Diagnostic exome sequencing in persons with severe intellectual disability.

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• Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

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• Oligonucleotide microarrays in constitutional genetic diagnosis

  2011influential reference
• Deep sequencing reveals 50 novel genes for recessive cognitive disorders

  2011cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
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  2010cited by this paper
• Genetics of early onset cognitive impairment.

  2010cited by this paper
• Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

  2009cited by this paper
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  2009cited by this paper
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  2009cited by this paper
• [Etiologic evaluation of genetically-caused mental retardation. Diagnostic algorithm and new molecular techniques].

  2009cited by this paper
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  2009cited by this paper
• Genetics of intellectual disability.

  2008cited by this paper
• Genetic evaluation of intellectual disabilities.

  2008cited by this paper
• Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology.

  2008influential reference
• Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

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  2006cited by this paper
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  2006cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  2003influential reference
• Advances in molecular cytogenetics for the evaluation of mental retardation

  2003cited by this paper
• The Importance of Minor Anomalies in the Evaluation of the Newborn

  2003cited by this paper
• Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

  2002cited by this paper
• The end of the beginning of chromosome ends

  2002cited by this paper
• Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

  2001cited by this paper
• Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

  2001cited by this paper
• Subtle chromosomal rearrangements in children with unexplained mental retardation

  1999cited by this paper
• Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

  1997cited by this paper
• The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

  1995cited by this paper
• Interstitial deletion of (17)(p11.2p11.2) in nine patients.

  1986cited by this paper
• Congenital anomalies in the newborninfant, including minor variations

  1964cited by this paper

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