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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
Thomas Eggermann et al.
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Marielle Alders et al.
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L. Kessler et al.
HAEMOPHILIA (2014)
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Berivan Baskin et al.
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CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2014)
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Beom Hee Lee et al.
JOURNAL OF HUMAN GENETICS (2013)
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Cornelia Homig-Holzel et al.
DIAGNOSTIC MOLECULAR PATHOLOGY (2012)
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Carlos E. Prada et al.
PEDIATRICS (2012)
Validation of Multiplex Ligation-Dependent Probe Amplification for Confirmation of Array Comparative Genomic Hybridization
Lawrence J. Jennings et al.
DIAGNOSTIC MOLECULAR PATHOLOGY (2011)
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
Monique M. van Veghel-Plandsoen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Hutton M. Kearney et al.
GENETICS IN MEDICINE (2011)
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Salah Azzi et al.
HUMAN MUTATION (2011)
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Sanaa Choufani et al.
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Stuart A. Scott et al.
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Salah Azzi et al.
HUMAN MOLECULAR GENETICS (2009)
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Manuela Priolo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
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R. H. Scott et al.
JOURNAL OF MEDICAL GENETICS (2008)
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome
WN Cooper et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method
KJ Livak et al.
METHODS (2001)