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

Year Number of Results
1976 207
1977 236
1978 255
1979 336
1980 230
1981 328
1982 268
1983 231
1984 270
1985 250
1986 271
1987 252
1988 302
1989 284
1990 331
1991 311
1992 371
1993 311
1994 318
1995 316
1996 324
1997 351
1998 239
1999 188
2000 185
2001 187
2002 205
2003 210
2004 229
2005 384
2006 297
2007 381
2008 321
2009 260
2010 283
2011 219
2012 196
2013 169
2014 159
2015 130
2016 143
2017 123
2018 109
2019 151
2020 70
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Search Results

10,585 results
Results by year
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Page 1
Deep intronic mutations and human disease.
Vaz-Drago R, Custódio N, Carmo-Fonseca M. Vaz-Drago R, et al. Hum Genet. 2017 Sep;136(9):1093-1111. doi: 10.1007/s00439-017-1809-4. Epub 2017 May 12. Hum Genet. 2017. PMID: 28497172 Review.
The hnRNP family: insights into their role in health and disease.
Geuens T, Bouhy D, Timmerman V. Geuens T, et al. Hum Genet. 2016 Aug;135(8):851-67. doi: 10.1007/s00439-016-1683-5. Epub 2016 May 23. Hum Genet. 2016. PMID: 27215579 Free PMC article. Review.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. Monies D, et al. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Genetic mutations in RNA-binding proteins and their roles in ALS.
Kapeli K, Martinez FJ, Yeo GW. Kapeli K, et al. Hum Genet. 2017 Sep;136(9):1193-1214. doi: 10.1007/s00439-017-1830-7. Epub 2017 Jul 31. Hum Genet. 2017. PMID: 28762175 Free PMC article. Review.
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E. Krausz C, et al. Hum Genet. 2017 May;136(5):637-655. doi: 10.1007/s00439-017-1793-8. Epub 2017 Apr 29. Hum Genet. 2017. PMID: 28456834 Review.
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
Forensic use of Y-chromosome DNA: a general overview.
Kayser M. Kayser M. Hum Genet. 2017 May;136(5):621-635. doi: 10.1007/s00439-017-1776-9. Epub 2017 Mar 17. Hum Genet. 2017. PMID: 28315050 Free PMC article. Review.
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