subject area of
- A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog Journal Articles
- A Role of p73 in Mitotic Exit Journal Articles
- A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene Journal Articles
- A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease Journal Articles
- A polymorphic locus, D10S5, at 10q21.1 Journal Articles
- 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 Journal Articles
- Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage Journal Articles
- Bleeding risks associated with inheritance of the Quebec platelet disorder Journal Articles
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus Journal Articles
- Cell of Origin in AML: Susceptibility to MN1-Induced Transformation Is Regulated by the MEIS1/AbdB-like HOX Protein Complex Journal Articles
- Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis Journal Articles
- Clinical, biochemical and genetic features of five extended kindred's with glucocorticoid-suppressible hyperaldosteronism. Conferences
- Congenital antithrombin III deficiency Journal Articles
- DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG) Journal Articles
- Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb morgantown (β91 CTG>CG) Journal Articles
- ERK activity facilitates activation of the S-phase DNA damage checkpoint by modulating ATR function Journal Articles
- Electrophoretic variants of human 6‐phosphogluconate dehydrogenase: population and family studies and description of a new variant Journal Articles
- Evidence for variation in the number of functional gene copies at the AmaR locus in chinese hamster cell lines Journal Articles
- Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Journal Articles
- Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13 Journal Articles
- MOLECULAR AND PHARMACOLOGICAL CHARACTERISATION OF THE MSH-R ALLELES IN SWISS CATTLE BREEDS Conferences
- Novel dominant β‐thalassemia: Hb Boston‐Kuwait [Codon 139/140(+T)] Journal Articles
- Opposing Roles of C/EBPβ and AP-1 in the Control of Fibroblast Proliferation and Growth Arrest-specific Gene Expression Journal Articles
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Journal Articles
- Platelet specific alloantigens on the platelet glycoprotein Ia/IIa complex Journal Articles
- Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia Journal Articles
- Promyelocytic Leukemia Protein is Required for Gain of Function by Mutant p53 Journal Articles
- SELECTION FOR MALATHION-RESISTANCE INDROSOPHILA MELANOGASTER Journal Articles
- SRF-dependent gene expression is required for PI3-kinase-regulated cell proliferation. Journal Articles
- Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Journal Articles
- Somatic cell hybridization of Roberts syndrome and normal human fibroblasts transfected with plasmids carrying dominant selection markers Journal Articles
- 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 Journal Articles
- The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease Journal Articles
- The Transcriptional Repressor ZEB Regulates p73 Expression at the Crossroad between Proliferation and Differentiation Journal Articles
- The defining DNA methylation signature of Floating-Harbor Syndrome Journal Articles
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Journal Articles
- Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. Journal Articles
- X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY Journal Articles