Physician

Medical Genetics

Joyce Kobori is an expert in the field of Medical Genetics. She studied medicine at University of California San Francisco School of Medicine. University of California San Francisco School of Medicine is a top medical university. University of California San Francisco School of Medicine has a rank of 3 in research and a 3 in primary care She has 2 awards "Regional Top Doctor" and "Top MD". Joyce Kobori has written publications. She has 35 publications published with PubMed. The lastest publication is: 'Prader-Willi syndrome is caused by disruption of the SNRPN gene.'

Publications

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• Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.
• The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease.
• Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
• Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
• Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
• The ht beta gene encodes a novel CACCC box-binding protein that regulates T-cell receptor gene expression.
• Prader-Willi syndrome is caused by disruption of the SNRPN gene.
• Molecular analysis of skewed Tcra-V gene use in T-cell receptor beta-chain transgenic mice.
• Abnormalities of the visual system in infants exposed to cocaine.
• Structure-function relationship among T-cell receptors specific for lysozyme peptides bound to Ab or Abm-12 molecules.
• Molecular analysis of the hotspot of recombination in the murine major histocompatibility complex.
• Specific-primer-directed DNA sequencing.
• Molecular characterization of meiotic recombination within the major histocompatibility complex of the mouse: mapping of crossover sites within the I region.
• Molecular characterization of the recombination region of six murine major histocompatibility complex (MHC) I-region recombinants.
• Arhinencephaly. The spectrum of associated malformations.
• Intrauterine anoxic brain damage in nonimmune hydrops fetalis.
• Cloning of bacterial DNA replication genes in bacteriophage lambda.
• The Escherichia coli dnaC gene product. III. Properties of the dnaB-dnaC protein complex.
• The Escherichia coli dnaC gene product. II. Purification, physical properties, and role in replication.
• The Escherichia coli dnaC gene product. I. Overlapping of the dnaC proteins of Escherichia coli and Salmonella typhimurium by cloning into a high copy number plasmid.
• Enzyme studies of phi X174 DNA replication.
• Mechanism of dnaB protein action. V. Association of dnaB protein, protein n', and other repriming proteins in the primosome of DNA replication.
• RNA transcripts for I-J polypeptides are apparently not encoded between the I-A and I-E subregions of the murine major histocompatibility complex.
• Structure of Escherichia coli dnaC. Identification of a cysteine residue possibly involved in association with dnaB protein.
• Segregation of the Huntington disease region of human chromosome 4 in a somatic cell hybrid.
• Enzymatic conversion of single-stranded phiX174 and G4 circles to duplex forms: discontinuous replication.
• The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
• Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
• Facial features of infants exposed prenatally to cocaine.
• Staphylococcal scalded skin syndrome: a complication of circumcision.
• Enzymatic recognition of DNA replication origins.
• Genes of the major histocompatibility complex.
• Identification of a peptide directed against the anti-CD34 antibody, 9C5, by phage display and its use in hematopoietic stem cell selection.
• Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Schools

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• University Of California San Francisco School Of Medicine

• Chldns Hospital University Penn

• Stanford University

• Uc San Francisco

Conditions Treated

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• Ataxia
• Epilepsy

Doctors Specialties

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• Clinical Genetics
• Pediatric Neurology
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Regional Top Doctor
• Top MD

Education

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• UCSF Medical Center
• Stanford University
• Children's Hospital of Philadelphia
• University of California San Francisco School of Medicine

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