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Clinical Genetics|November 1, 1989
The prevention and management of autosomal recessive conditions. Main example: alpha 1-antitrypsin deficiencyK H GustavsonClinical Genetics|November 1, 1989
Environmental health hazard handling: statistical and strategic concernsJ HildenClinical Genetics|November 1, 1989
Impact, logistics and prospects of traditional prenatal diagnosisW FurhmannClinical Genetics|November 1, 1989
Automated cytogenetic analysis: accomplishments, present status and practical future possibilitiesC Lundsteen, J PhilipClinical Genetics|November 10, 2017
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset ParkinsonismE A Burke, S J Frucht, K Thompson, et al.Clinical Genetics|August 4, 2016
Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paragangliomaA S Hoekstra, B van den Ende, X P Julià, et al.Clinical Genetics|February 10, 2025
Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 (DNM1) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in HumanOliver R Marmoy, Eleanor Hay, Richard Bowman, et al.Clinical Genetics|February 16, 2025
Intrahepatic Cholestasis of Pregnancy: A Single-Centre Whole-Exome Sequencing Study in a Maltese CohortDorianne Spiteri, Laura Grech, Charles Savona-Ventura, et al.Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.Pageof 720