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

Year Number of Results
1978 1
1979 2
1981 2
1982 3
1983 3
1984 1
1987 1
1989 2
1992 2
1993 2
1995 1
1996 3
1997 2
1998 1
1999 1
2000 1
2002 1
2003 1
2004 2
2005 2
2006 7
2007 3
2008 3
2009 3
2011 1
2012 2
2013 3
2014 5
2015 2
2016 1
2018 1
2019 3
2021 1
2022 2
2023 4
2024 0

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70 results

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Page 1
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Using whole-exome sequencing (WES), we identified a MRPL50 homozygous missense variant (c.335T > A; p.Val112Asp) shared by twin sisters presenting with POI, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. ...
Using whole-exome sequencing (WES), we identified a MRPL50 homozygous missense variant (c.335T > A; p.Val112Asp) shared by twin si …
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Genetic foundations of human intelligence.
Deary IJ, Johnson W, Houlihan LM. Deary IJ, et al. Hum Genet. 2009 Jul;126(1):215-32. doi: 10.1007/s00439-009-0655-4. Epub 2009 Mar 18. Hum Genet. 2009. PMID: 19294424 Free article. Review.
The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parameters.
Vogel F, Schalt E, Krüger J, Propping P, Lehnert KF. Vogel F, et al. Hum Genet. 1979 Feb 28;47(1):1-45. doi: 10.1007/BF00295569. Hum Genet. 1979. PMID: 570956
In the first section of this paper, various research designs in human behavior genetics are compared. In this context, the commonly used concept of biometric genetics is critically evaluated from the point of view of science theory. ...In addition to an EEG examination, th …
In the first section of this paper, various research designs in human behavior genetics are compared. In this context, the commonly u …
Epidemiology of substance use disorders.
Merikangas KR, McClair VL. Merikangas KR, et al. Hum Genet. 2012 Jun;131(6):779-89. doi: 10.1007/s00439-012-1168-0. Epub 2012 Apr 28. Hum Genet. 2012. PMID: 22543841 Free PMC article. Review.
Epidemiological studies of substance use and substance use disorders (SUDs) have provided an abundance of data on the patterns of substance use in nationally representative samples across the world (Degenhardt et al. in PLoS Med 5(7):e141, 2008; Johnston et al. in Monitoring the …
Epidemiological studies of substance use and substance use disorders (SUDs) have provided an abundance of data on the patterns of substance …
Candidate gene studies of ADHD: a meta-analytic review.
Gizer IR, Ficks C, Waldman ID. Gizer IR, et al. Hum Genet. 2009 Jul;126(1):51-90. doi: 10.1007/s00439-009-0694-x. Epub 2009 Jun 9. Hum Genet. 2009. PMID: 19506906 Review.
Quantitative genetic studies (i.e., twin and adoption studies) suggest that genetic influences contribute substantially to the development of attention deficit hyperactivity disorder (ADHD). ...
Quantitative genetic studies (i.e., twin and adoption studies) suggest that genetic influences contribute substantially to the develo …
Risk factors for autism: translating genomic discoveries into diagnostics.
Scherer SW, Dawson G. Scherer SW, et al. Hum Genet. 2011 Jul;130(1):123-48. doi: 10.1007/s00439-011-1037-2. Epub 2011 Jun 24. Hum Genet. 2011. PMID: 21701786 Review.
The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mu …
The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. …
A human rights approach to an international code of conduct for genomic and clinical data sharing.
Knoppers BM, Harris JR, Budin-Ljøsne I, Dove ES. Knoppers BM, et al. Hum Genet. 2014 Jul;133(7):895-903. doi: 10.1007/s00439-014-1432-6. Epub 2014 Feb 27. Hum Genet. 2014. PMID: 24573176 Free PMC article.
While collaboration for data sharing is increasingly embraced by policymakers and the international biomedical community, we lack a common ethical and legal framework to connect regulators, funders, consortia, and research projects so as to facilitate genomic and clinical …
While collaboration for data sharing is increasingly embraced by policymakers and the international biomedical community, we lack a common e …
Genetic influence on human lifespan and longevity.
vB Hjelmborg J, Iachine I, Skytthe A, Vaupel JW, McGue M, Koskenvuo M, Kaprio J, Pedersen NL, Christensen K. vB Hjelmborg J, et al. Hum Genet. 2006 Apr;119(3):312-21. doi: 10.1007/s00439-006-0144-y. Epub 2006 Feb 4. Hum Genet. 2006. PMID: 16463022
Mean lifespan for male monozygotic (MZ) twins increases 0.39 [95% CI (0.28, 0.50)] years for every year his co-twin survives past age 60 years. This rate is significantly greater than the rate of 0.21 (0.11, 0.30) for dizygotic (DZ) males. Females and males have similar ra …
Mean lifespan for male monozygotic (MZ) twins increases 0.39 [95% CI (0.28, 0.50)] years for every year his co-twin survives past age …
70 results