Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
3-M syndrome: evolution of the phenotype over time.
Bacchi I et al.
Italian Journal of Pediatrics, 2025
41437277 (PubMed )
Supplement: 13052_2025_2172_MOESM1_ESM.xlsx › S1_CUL7
3M syndrome in Saudi Arabia: a case series study and literature review.
Alhuthil R et al.
Frontiers in Endocrinology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L et al.
European Journal of Endocrinology, 2017
Pre- and post-natal growth in two sisters with 3-M syndrome.
Lugli L et al.
European Journal of Medical Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.
Al-Dosari MS et al.
The Journal of Pediatrics, 2012
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