Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anne B. S. Giersch"'
Autor:
Calli O. Mitchell, Greysha Rivera-Cruz, Matthew Hoi Kin Chau, Zirui Dong, Kwong Wai Choy, Jun Shen, Sami Amr, Anne B. S. Giersch, Cynthia C. Morton
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 36 (2022)
Recent advances in genomic sequencing technologies have expanded practitioners’ utilization of genetic information in a timely and efficient manner for an accurate diagnosis. With an ever-increasing resource of genomic data from progress in the int
Externí odkaz:
https://doaj.org/article/507ffb223c5746caba03c4aec6ea2a0c
Autor:
Laura M Sack, Lauren Mertens, Elissa Murphy, Laura Hutchinson, Anne B S Giersch, Heather Mason-Suares
Publikováno v:
Clinical Chemistry. 69:583-594
Background Biallelic deletions at 15q15.3, including STRC and CATSPER2, cause autosomal recessive deafness-infertility syndrome (DIS), while biallelic deletions of STRC alone cause nonsyndromic hearing loss. These deletions are among the leading gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1285df7897561c1d21707d0b419f6946
https://doi.org/10.1093/clinchem/hvad032
https://doi.org/10.1093/clinchem/hvad032
Autor:
Sherri M, Jones, Nahid G, Robertson, Shelly, Given, Anne B S, Giersch, M Charles, Liberman, Cynthia C, Morton
Publikováno v:
Hearing research. 272(1-2)
Two mouse models, the Coch(G88E/G88E) or "knock-in" and the Coch(-/-) or "knock-out" (Coch null), have been developed to study the human late-onset, progressive, sensorineural hearing loss and vestibular dysfunction known as DFNA9. This disorder resu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6de54820098b37a0022a4ef6894cf6dd
https://pubmed.ncbi.nlm.nih.gov/21073934
https://pubmed.ncbi.nlm.nih.gov/21073934