Refreshing results…
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders
Download from academic.oup.comThe genetic basis of DOORS syndrome: An exome-sequencing study
Download from doi.orgMyhre and LAPS syndromes: Clinical and molecular review of 32 patients
Download from www.nature.comDiagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
Download from doi.orgMCTP2 is a dosage-sensitive gene required for cardiac outflow tract development
Download from academic.oup.comA Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
Download from www.researchgate.netWNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta
Download from www.ncbi.nlm.nih.govYunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
Download from doi.orgEarly Childhood Presentation of Czech Dysplasia
Download from www.ncbi.nlm.nih.govNext-generation sequencing for disorders of low and high bone mineral density
Download from www.ncbi.nlm.nih.govNitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
Download from doi.orgMiRNA-34c regulates Notch signaling during bone development
Download from europepmc.orgMutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Download from doi.orgRequirement of Argininosuccinate Lyase for Systemic Nitric Oxide Production
Download from www.ncbi.nlm.nih.govMissing publications? Search for publications with a matching author name.