Related references
Note: Only part of the references are listed.Consanguinity and the risk of congenital heart disease
Joseph T. C. Shieh et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
Hanan Hamamy et al.
GENETICS IN MEDICINE (2011)
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
Erin B. Kaminsky et al.
GENETICS IN MEDICINE (2011)
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
D. L. Bruno et al.
JOURNAL OF MEDICAL GENETICS (2011)
SMARCAL1 and replication stress: An explanation for SIOD?
Carol E. Bansbach et al.
Nucleus (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Melanie Manning et al.
GENETICS IN MEDICINE (2010)
Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation A Multicenter Experience of 1499 Clinical Cases
Bixia Xiang et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
Yao-Shan Fan et al.
HUMAN MUTATION (2007)
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
CF Boerkoel et al.
NATURE GENETICS (2002)
2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria
RJ Dunckelmann et al.
NEUROPEDIATRICS (2000)
Consanguinity in South America: Demographic aspects
R Liascovich et al.
HUMAN HEREDITY (2000)
Share Paper
