Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Richard JH"'
Autor:
Niloofar BAZAZZADEGAN, Raheleh VAZEHAN, Mahsa FADAEE, Zohreh FATTAHI, Ayda ABOLHASSANI, Elham PARSIMEHR, Zahra KALHOR, Mehrshid FARAJI ZONOOZ, Fatemeh AHANGARI, Shima DEHDAHSI, Farshide SAMIEE, Payman JAMALI, Haleh HABIBI, Younes NOURIZADEH, Shokouh MAHDAVI, Maryam BEHESHTIAN, Ariana KARIMINEJAD, Richard JH SMITH, Hossein NAJMABADI
Publikováno v:
Iranian Journal of Public Health, Vol 48, Iss 10 (2019)
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent. Techniques such as next
Externí odkaz:
https://doaj.org/article/2bb2e364df144354b6a117fcf7751f96
Autor:
Yoichiro, Iwasa, Miles J, Klimara, Hidekane, Yoshimura, William D, Walls, Ryotaro, Omichi, Cody A, West, Seiji B, Shibata, Paul T, Ranum, Richard Jh, Smith
Publikováno v:
Life science alliance. 6(3)
Hearing loss is the most common sensory deficit, of which genetic etiologies are a frequent cause. Dominant and recessive mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81c29630f3f3a6950afc3ece6b54c421
https://pubmed.ncbi.nlm.nih.gov/36574989
https://pubmed.ncbi.nlm.nih.gov/36574989
Publikováno v:
In The Lancet 2005 365(9462):879-890
Autor:
Shearer A Eliot, Hildebrand Michael S, Ravi Harini, Joshi Swati, Guiffre Angelica C, Novak Barbara, Happe Scott, LeProust Emily M, Smith Richard JH
Publikováno v:
BMC Genomics, Vol 13, Iss 1, p 618 (2012)
Abstract Background Targeted genomic enrichment (TGE) is a widely used method for isolating and enriching specific genomic regions prior to massively parallel sequencing. To make effective use of sequencer output, barcoding and sample pooling (multip
Externí odkaz:
https://doaj.org/article/56f45441d56945659b27e42c21cd6038
Publikováno v:
BMC Biotechnology, Vol 12, Iss 1, p 20 (2012)
Abstract Background Solution-based targeted genomic enrichment (TGE) protocols permit selective sequencing of genomic regions of interest on a massively parallel scale. These protocols could be improved by: 1) modifying or eliminating time consuming
Externí odkaz:
https://doaj.org/article/2320a0b8a6a04b8a8ff4181d5aa17f17
Publikováno v:
Journal of medical genetics. 55(8)
BACKGROUND: Hearing loss is a genetically and phenotypically heterogenous disorder. OBJECTIVES: The purpose of this study was to determine the genetic cause underlying the post-lingual progressive hearing loss in two Iranian families. METHODS: We use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7e1740c010892bac2d16c6a61219d92b
https://pubmed.ncbi.nlm.nih.gov/29703829
https://pubmed.ncbi.nlm.nih.gov/29703829
Autor:
Smith Richard JH, Pollak Martin R, Meyer Nicole, Cheng Junsheng, Hao Ke, Leykin Igor, Wong Wing, Rosenow Carsten, Li Cheng
Publikováno v:
BMC Genetics, Vol 6, Iss 1, p 7 (2005)
Abstract Background The identification of disease-associated genes using single nucleotide polymorphisms (SNPs) has been increasingly reported. In particular, the Affymetrix Mapping 10 K SNP microarray platform uses one PCR primer to amplify the DNA
Externí odkaz:
https://doaj.org/article/8789a84c3e55413c83d70694af07a058
Autor:
Maryam, Beheshtian, Mojgan, Babanejad, Hela, Azaiez, Niloofar, Bazazzadegan, Diana, Kolbe, Christina, Sloan-Heggen, Sanaz, Arzhangi, Kevin, Booth, Marzieh, Mohseni, Kathy, Frees, Mohammad Hossein, Azizi, Ahmad, Daneshi, Mohammad, Farhadi, Kimia, Kahrizi, Richard Jh, Smith, Hossein, Najmabadi
Publikováno v:
Archives of Iranian medicine. 19(10)
A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::07d4468617125ac00e26546749353b24
https://pubmed.ncbi.nlm.nih.gov/27743438
https://pubmed.ncbi.nlm.nih.gov/27743438
Autor:
Kemerley, Andrew, Sloan-Heggen, Christina M, Pfeifer, Wanda L, Smith, Richard JH, Drack, Arlene V
Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations. Other common manifestations include hearing loss, sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f6853dac1eb518a6d26a6c4960d70cd
https://europepmc.org/articles/PMC5722223/
https://europepmc.org/articles/PMC5722223/
Autor:
KAREN A KÖLLN, RICHARD JH SMITH
Publikováno v:
Audiological Medicine. 1:71-76
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a09689e41d0decdd16705fb1a2fb5bcf
https://doi.org/10.1080/16513860310003067
https://doi.org/10.1080/16513860310003067