Associated Papers
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
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Fallatah W et al.
Journal of Inherited Metabolic Disease, 2021
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.
Samanta D
Eneurologicalsci, 2020
The type-2 peroxisomal targeting signal.
Kunze M
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
The neurology of rhizomelic chondrodysplasia punctata.
Bams-Mengerink AM et al.
Orphanet Journal of Rare Diseases, 2013
Rhizomelic chondrodysplasia punctata and cardiac pathology.
Huffnagel IC et al.
Journal of Medical Genetics, 2013
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N et al.
Human Mutation, 2002
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM et al.
American Journal of Human Genetics, 2002
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