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The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 998 - 1010
Journal Article
BMC genomics, ISSN 1471-2164, 2014, Volume 15, Issue 1, pp. 890 - 890
Background: Inherited developmental diseases can cause severe animal welfare and economic problems in dairy cattle. The use of a small number of bulls for... 
Structural malformation | Increased juvenile mortality | Intellectual disability | Bovine | Kaufman oculocerebrofacial syndrome | Splicing cite mutation | UBE3B | SPLICING ENHANCERS | POPULATION | ANGELMAN-SYNDROME | GENE | WEB | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | STRUCTURE PREDICTION | TOOL | Haplotypes | Limb Deformities, Congenital - genetics | Microcephaly - genetics | Exons | Molecular Sequence Data | Male | Intellectual Disability - genetics | RNA Splicing | Cattle | Microcephaly - pathology | Facies | Intellectual Disability - veterinary | Amino Acid Sequence | Genome-Wide Association Study | Microcephaly - veterinary | Intellectual Disability - pathology | Ubiquitin-Protein Ligases - metabolism | Chromosome Mapping | Eye Abnormalities - genetics | Eye Abnormalities - veterinary | Phenotype | Sequence Alignment | Animals | Eye Abnormalities - pathology | Limb Deformities, Congenital - veterinary | Polymorphism, Single Nucleotide | Ubiquitin-Protein Ligases - genetics | Limb Deformities, Congenital - pathology | Gene mutations | Exon (Molecular genetics) | Genetic aspects | Properties | Identification and classification | Risk factors | Diseases | Health aspects | Analysis | Genes | Biotechnology industry | Genetic screening | Data analysis | Mortality | Colleges & universities | Veterinary medicine | Gene expression | Defects | Proteins | Archives & records | Quality control | Artificial insemination | Population | Mutation | Chromosomes | Index Medicus
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 7/2014, Volume 133, Issue 7, pp. 939 - 949
Journal Article
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
Journal Article