Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.
Giacomozzi C et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Walenkamp MJE et al.
European Journal of Endocrinology, 2019
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC et al.
European Journal of Endocrinology, 2019
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.
Rodríguez-de la Rosa L et al.
Frontiers in Aging Neuroscience, 2017
Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R et al.
Genome Research, 2014
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