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- A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Academic Article
- A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family Academic Article
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders Academic Article
- Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype Academic Article
- Familial dysmyelination in a Long Evans rat mutant. Academic Article
- Genetic and biochemical characterization of mutants of CHO cells resistant to the protein synthesis inhibitor trichodermin Academic Article
- Genotype-phenotype correlations in recessive RYR1-related myopathies Academic Article
- Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Academic Article
- MOLECULAR AND PHARMACOLOGICAL CHARACTERISATION OF THE MSH-R ALLELES IN SWISS CATTLE BREEDS Conference Paper
- Molecular genetic analysis of severe protein C deficiency. Academic Article
- Mutants of CHO cells resistant to the protein synthesis inhibitor emetine: Genetic and biochemical characterization of second-step mutants Academic Article
- Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome Academic Article
- Obesity genetics: insights from the Pakistani population Academic Article
- Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Academic Article
- Random segregation of multiple genetic markers from CHO-CHO hybrids: Evidence for random distribution of functional hemizygosity in the genome Academic Article
- Recessive CLCN1 mutation presenting as thomsen disease Academic Article
- Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon Academic Article
- SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article
- Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings Academic Article
- Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy Academic Article
- Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly” Academic Article
- The molecular basis of emetine resistance in chinese hamster ovary cells: Alteration in the 40S ribosomal subunit Academic Article
- Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A Academic Article