subject area of
- A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Journal Articles
- A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog Journal Articles
- Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype Journal Articles
- Familial dysmyelination in a Long Evans rat mutant. Journal Articles
- Genetic and biochemical characterization of mutants of CHO cells resistant to the protein synthesis inhibitor trichodermin Journal Articles
- Genotype-phenotype correlations in recessive RYR1-related myopathies Journal Articles
- Hemiparesis and absent MRI findings in Freidreich's ataxia. Journal Articles
- Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Journal Articles
- MOLECULAR AND PHARMACOLOGICAL CHARACTERISATION OF THE MSH-R ALLELES IN SWISS CATTLE BREEDS Conferences
- Molecular genetic analysis of severe protein C deficiency. Journal Articles
- Mutants of CHO cells resistant to the protein synthesis inhibitor emetine: Genetic and biochemical characterization of second-step mutants Journal Articles
- Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome Journal Articles
- Obesity genetics: insights from the Pakistani population Journal Articles
- Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Journal Articles
- Random segregation of multiple genetic markers from CHO-CHO hybrids: Evidence for random distribution of functional hemizygosity in the genome Journal Articles
- Recessive CLCN1 mutation presenting as thomsen disease Journal Articles
- Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon Journal Articles
- SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Journal Articles
- Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings Journal Articles
- Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy Journal Articles
- Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly” Journal Articles
- The molecular basis of emetine resistance in chinese hamster ovary cells: Alteration in the 40S ribosomal subunit Journal Articles
- Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A Journal Articles