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Human Molecular Genetics
|
February 5, 1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
Y J de Kok, S J Bom, T M Brunt, et al.
Genome Research
|
October 6, 1997
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21
J H Greinwald, D A Scott, J R Marietta, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 17, 1999
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations
C T Basson, T Huang, R C Lin, et al.
Science (New York, N.Y.)
|
June 20, 1998
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
J D Eudy, M D Weston, S Yao, et al.
Journal of Biomedical Informatics
|
August 23, 2022
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease
M A Bouzinier, D Etin, S I Trifonov, et al.
Prenatal Diagnosis
|
March 1, 1997
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations
L Y Hsu, M T Yu, R L Neu, et al.
Human Molecular Genetics
|
August 7, 2001
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
K N Alagramam, H Yuan, M H Kuehn, et al.
Gene
|
October 3, 1998
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19
D A Scott, J H Greinwald, J R Marietta, et al.
Cytogenetics and Cell Genetics
|
May 27, 1999
Report of the fourth international workshop on human chromosome 15 mapping 1997
C C Morton, S L Christian, T A Donlon, et al.
Nature Genetics
|
January 23, 1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
F E Karet, K E Finberg, R D Nelson, et al.
Page
of 19
Search research articles
Search
Showing results (171-180 of 185) with videos related to
Sort By:
Page
of 19
Human Molecular Genetics
|
February 5, 1999
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
Y J de Kok, S J Bom, T M Brunt, et al.
Genome Research
|
October 6, 1997
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21
J H Greinwald, D A Scott, J R Marietta, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 17, 1999
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations
C T Basson, T Huang, R C Lin, et al.
Science (New York, N.Y.)
|
June 20, 1998
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
J D Eudy, M D Weston, S Yao, et al.
Journal of Biomedical Informatics
|
August 23, 2022
AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease
M A Bouzinier, D Etin, S I Trifonov, et al.
Prenatal Diagnosis
|
March 1, 1997
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations
L Y Hsu, M T Yu, R L Neu, et al.
Human Molecular Genetics
|
August 7, 2001
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
K N Alagramam, H Yuan, M H Kuehn, et al.
Gene
|
October 3, 1998
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19
D A Scott, J H Greinwald, J R Marietta, et al.
Cytogenetics and Cell Genetics
|
May 27, 1999
Report of the fourth international workshop on human chromosome 15 mapping 1997
C C Morton, S L Christian, T A Donlon, et al.
Nature Genetics
|
January 23, 1999
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
F E Karet, K E Finberg, R D Nelson, et al.
Page
of 19