subject area of
- A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog Academic Article
- A Role of p73 in Mitotic Exit Academic Article
- A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene Academic Article
- A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease Academic Article
- A polymorphic locus, D10S5, at 10q21.1 Academic Article
- An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect Academic Article
- Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage Academic Article
- Bleeding risks associated with inheritance of the Quebec platelet disorder Academic Article
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus Academic Article
- Cell of Origin in AML: Susceptibility to MN1-Induced Transformation Is Regulated by the MEIS1/AbdB-like HOX Protein Complex Academic Article
- Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis Academic Article
- Congenital antithrombin III deficiency Academic Article
- DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG) Academic Article
- Dominantly inherited thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the globin gene: Hb morgantown ( 91 CTG>CG) Academic Article
- ERK activity facilitates activation of the S-phase DNA damage checkpoint by modulating ATR function Academic Article
- Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant Academic Article
- Evidence for variation in the number of functional gene copies at the AmaR locus in chinese hamster cell lines Academic Article
- Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Academic Article
- Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34] Academic Article
- Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13 Academic Article
- MOLECULAR AND PHARMACOLOGICAL CHARACTERISATION OF THE MSH-R ALLELES IN SWISS CATTLE BREEDS Conference Paper
- Novel dominant β-thalassemia: Hb Boston-Kuwait [Codon 139/140(+T)] Academic Article
- Opposing Roles of C/EBPβ and AP-1 in the Control of Fibroblast Proliferation and Growth Arrest-specific Gene Expression Academic Article
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Academic Article
- Platelet specific alloantigens on the platelet glycoprotein Ia/IIa complex Academic Article
- Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans Academic Article
- Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia Academic Article
- Promyelocytic Leukemia Protein is Required for Gain of Function by Mutant p53 Academic Article
- SELECTION FOR MALATHION-RESISTANCE IN DROSOPHILA MELANOGASTER Academic Article
- Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Academic Article
- Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers Academic Article
- Studies of a Second Family With the Quebec Platelet Disorder: Evidence That the Degradation of the α-Granule Membrane and Its Soluble Contents Are Not Secondary to a Defect in Targeting Proteins to α-Granules Academic Article
- The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease Academic Article
- The Transcriptional Repressor ZEB Regulates p73 Expression at the Crossroad between Proliferation and Differentiation Academic Article
- The defining DNA methylation signature of Floating-Harbor Syndrome Academic Article
- The genetics of childhood cancer Academic Article
- The oro-facial-digital syndrome Academic Article
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Academic Article
- Unraveling the Complexities of DNA-Dependent Protein Kinase Autophosphorylation Academic Article
- X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY Academic Article