Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1947 1
1948 1
1949 2
1951 1
1953 2
1954 2
1955 5
1957 2
1958 5
1959 9
1960 5
1961 3
1962 1
1963 5
1964 1
1965 3
1967 2
1968 1
1969 2
1970 3
1971 1
1972 2
1973 2
1974 5
1975 2
1976 3
1977 11
1978 6
1979 6
1980 1
1981 3
1982 1
1983 4
1984 4
1985 4
1987 3
1988 1
1989 4
1990 5
1991 1
1992 7
1993 8
1994 3
1995 6
1996 9
1997 10
1998 4
1999 15
2000 6
2001 5
2002 14
2003 12
2004 20
2005 12
2006 17
2007 28
2008 22
2009 20
2010 16
2011 14
2012 9
2013 15
2014 17
2015 18
2016 18
2017 9
2018 17
2019 9
2020 10
2021 16
2022 15
2023 9
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

496 results

Results by year

Filters applied: . Clear all
Page 1
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: kremer h. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
Genetics of Hearing Impairment.
Kremer H, Del Castillo I. Kremer H, et al. Genes (Basel). 2022 May 11;13(5):852. doi: 10.3390/genes13050852. Genes (Basel). 2022. PMID: 35627237 Free PMC article.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: kremer h. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: kremer h. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. Brandsma R, et al. Among authors: kremer hph. Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Eur J Paediatr Neurol. 2019. PMID: 31481303 Review.
Spermatogenesis of Drosophila hydei.
Hennig W, Kremer H. Hennig W, et al. Among authors: kremer h. Int Rev Cytol. 1990;123:129-75. doi: 10.1016/s0074-7696(08)60673-7. Int Rev Cytol. 1990. PMID: 2289847 Review. No abstract available.
A Medical Mystery.
Kremer H. Kremer H. N Engl J Med. 1997 Mar 20;336(12):846. doi: 10.1056/NEJM199703203361206. N Engl J Med. 1997. PMID: 9062094 Free article. No abstract available.
Reviewing the genetic causes of spastic-ataxias.
de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. de Bot ST, et al. Among authors: kremer hp. Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. Neurology. 2012. PMID: 23033504 Review.
496 results