Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families

P Makrythanasis, M Nelis, FA Santoni… - Human …, 2014 - Wiley Online Library
Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …
被引用次数：91 相关文章

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families

P Makrythanasis, M Nelis, FA Santoni… - Human …, 2014 - pubmed.ncbi.nlm.nih.gov
Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

P Makrythanasis, M Nelis, FA Santoni… - Human …, 2014 - research.uaeu.ac.ae
Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

[引用][C] Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

P Makrythanasis, M Nelis, FA Santoni, M Guipponi… - Human Mutation, 2014 - cir.nii.ac.jp
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders
in Consanguineous Families | CiNii Research CiNii 国立情報学研究所 学術情報ナビゲータ[サイニィ …

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

P Makrythanasis, M Nelis, FA Santoni, M Guipponi… - Human mutation, 2014 - sonar.ch
English Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in
the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

P Makrythanasis, M Nelis, FA Santoni, M Guipponi… - Human Mutation, 2014 - infona.pl
Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

P Makrythanasis, M Nelis, FA Santoni, M Guipponi… - Human …, 2014 - europepmc.org
Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …
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[PDF][PDF] Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families

P Makrythanasis, M Nelis, FA Santoni… - Human …, 2014 - drive.google.com
Rare, atypical, and undiagnosed autosomalrecessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families

P Makrythanasis, M Nelis, FA Santoni… - Human …, 2014 - orca.cardiff.ac.uk
Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

P Makrythanasis, M Nelis, FA Santoni, M Guipponi… - Human mutation, 2014 - folia.unifr.ch
English Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in
the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …