Associated Papers
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Bosley-Salih-Alorainy syndrome in patients from India.
Patil SJ et al.
American Journal of Medical Genetics. Part A, 2020
Human HOX gene disorders.
Quinonez SC et al.
Molecular Genetics and Metabolism, 2014
HOXA1 gene is not potentially related to ventricular septal defect in Chinese children.
Liu J et al.
Pediatric Cardiology, 2013
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
Lintas C et al.
Journal of Medical Genetics, 2009
The clinical spectrum of homozygous HOXA1 mutations.
Bosley TM et al.
American Journal of Medical Genetics. Part A, 2008
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
Tischfield MA et al.
Nature Genetics, 2005
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