William J. Kimberling focuses on Genetics, Hearing loss, Usher syndrome, Usher Syndrome Type 1 and Gene mapping. His research in Genetic marker, Linkage, Frameshift mutation, Gene and Genetic linkage are components of Genetics. His Hearing loss research is multidisciplinary, relying on both Mutation, Point mutation and Genetic testing.
The Usher syndrome study combines topics in areas such as Nonsyndromic deafness, Gene expression and Molecular biology. His work focuses on many connections between Usher Syndrome Type 1 and other disciplines, such as Pediatrics, that overlap with his field of interest in Disease, Sibling, Pregnancy and Offspring. His studies in Audiology integrate themes in fields like Genetic counseling and Gene mutation.
William J. Kimberling focuses on Genetics, Usher syndrome, Hearing loss, Gene and Retinitis pigmentosa. His work in Gene mapping, Locus, Genetic linkage, Mutation and Missense mutation are all subfields of Genetics research. The study incorporates disciplines such as Linkage and Autosomal dominant polycystic kidney disease in addition to Genetic linkage.
His Usher syndrome study combines topics in areas such as Genetic heterogeneity and Pediatrics. His Hearing loss research is included under the broader classification of Audiology. His MYO7A research incorporates elements of Retinal degeneration, PCDH15 and CDH23.
His main research concerns Usher syndrome, Genetics, Hearing loss, Audiology and Missense mutation. His Usher syndrome study incorporates themes from Pediatrics and Gene mutation. His research related to Locus, Genetic heterogeneity, Genetic linkage, Gene and PCDH15 might be considered part of Genetics.
His Hearing loss research integrates issues from Mutation, Phenotype, CDH23 and Genotype. His Audiology course of study focuses on Usher Syndrome Type 1 and Genetic counseling, Genetic testing, Nonsyndromic deafness, Cell growth and Mutant. William J. Kimberling interconnects Single-nucleotide polymorphism and Frameshift mutation in the investigation of issues within Missense mutation.
The scientist’s investigation covers issues in Hearing loss, Genetics, Mutation, Usher syndrome and Missense mutation. His work deals with themes such as Pendred syndrome and Internal medicine, Genetic testing, which intersect with Hearing loss. His research combines Sensorineural hearing loss and Genetics.
His Mutation study combines topics from a wide range of disciplines, such as Allele and Branchio-oto-renal syndrome. His research on Usher syndrome frequently connects to adjacent areas such as Gene mutation. As part of the same scientific family, he usually focuses on Missense mutation, concentrating on Frameshift mutation and intersecting with Nonsense mutation, Locus, Gene mapping and Molecular biology.
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PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Toshio Mochizuki;Guanqing Wu;Tomohito Hayashi;Stavroulla L. Xenophontos.
Defective myosin VIIA gene responsible for Usher syndrome type 1B
Dominique Well;Stéphane Blanchard;Josseline Kaplan;Parry Guilford.
Quantitative trait locus for reading disability on chromosome 6.
Lon R. Cardon;Shelley D. Smith;David W. Fulker;William J. Kimberling.
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease.
Patricia A. Gabow;Ann M. Johnson;William D. Kaehny;William J. Kimberling.
Kidney International (1992)
Prevalent connexin 26 gene (GJB2) mutations in Japanese
Satoko Abe;Shin-ichi Usami;Hideichi Shinkawa;Philip M Kelley.
Journal of Medical Genetics (2000)
Specific reading disability: identification of an inherited form through linkage analysis
Shelley D. Smith;William J. Kimberling;Bruce F. Pennington;Herbert A. Lubs.
Mutations in the human |[alpha]|-tectorin gene cause autosomal dominant non-syndromic hearing impairment
Kristien Verhoeven;Lut Van Laer;Karin Kirschhofer;P Kevin Legan.
Nature Genetics (1998)
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
James D. Eudy;Michael D. Weston;Su Fang Yao;Denise M. Hoover.
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23
William J. Kimberling;Shrawan Kumar;Patricia A. Gabow;Judith B. Kenyon.
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
Shin Ichi Usami;Satoko Abe;Mike D. Weston;Hideichi Shinkawa.
Human Genetics (1999)
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