Refreshing results…
Clinical utility gene card for: Cornelia de Lange syndrome
Download from www.nature.comCarnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity
Download from www.researchgate.netNew case of Mitochondrial HMG-CoA Synthase deficiency. Functional analysis of eight mutations.
Download from www.researchgate.netCould a patient with SMC1A duplication be classified as a human cohesinopathy?
UploadCornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
Download from link.springer.comFacial Diagnosis of Mild and Variant CdLS: Insights From a Dysmorphologist Survey
Download from www.ncbi.nlm.nih.govTen novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
Download from www.researchgate.netMolecular genetics of HMG-CoA lyase deficiency
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