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

Year Number of Results
1962 1
1963 1
1964 5
1965 5
1966 3
1967 8
1968 15
1969 14
1970 8
1971 28
1972 17
1973 15
1974 15
1975 19
1976 12
1977 15
1978 16
1979 10
1980 18
1981 13
1982 18
1983 34
1984 21
1985 19
1986 22
1987 37
1988 57
1989 71
1990 65
1991 58
1992 76
1993 67
1994 75
1995 84
1996 77
1997 94
1998 80
1999 99
2000 112
2001 142
2002 93
2003 102
2004 104
2005 101
2006 132
2007 113
2008 138
2009 141
2010 138
2011 163
2012 164
2013 166
2014 188
2015 192
2016 218
2017 214
2018 248
2019 224
2020 209
2021 235
2022 233
2023 220
2024 84

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4,880 results

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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T. Kajdic N, et al. Bosn J Basic Med Sci. 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. Bosn J Basic Med Sci. 2018. PMID: 28623672 Free PMC article. Review.
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. ...When left untreated, craniosynostosis can cause se …
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. T …
Ichthyosis.
Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R. Gutiérrez-Cerrajero C, et al. Nat Rev Dis Primers. 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. Nat Rev Dis Primers. 2023. PMID: 36658199 Review.
They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation. ...
They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The …
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. ...
Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dys …
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
Ocular coloboma-a comprehensive review for the clinician.
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Lingam G, et al. Eye (Lond). 2021 Aug;35(8):2086-2109. doi: 10.1038/s41433-021-01501-5. Epub 2021 Mar 21. Eye (Lond). 2021. PMID: 33746210 Free PMC article. Review.
The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular m …
The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. …
International Consensus Recommendations on Microtia, Aural Atresia and Functional Ear Reconstruction.
Zhang TY, Bulstrode N, Chang KW, Cho YS, Frenzel H, Jiang D, Kesser BW, Siegert R, Triglia JM. Zhang TY, et al. J Int Adv Otol. 2019 Aug;15(2):204-208. doi: 10.5152/iao.2019.7383. J Int Adv Otol. 2019. PMID: 31418720 Free PMC article.
Recommendations include the definition and classification of microtia/atresia, treatment of microtia, treatment of congenital aural atresia, flowchart of functional ear reconstruction, and future research directions. ...
Recommendations include the definition and classification of microtia/atresia, treatment of microtia, treatment of congenital aural a …
Axenfeld-Rieger syndrome.
Seifi M, Walter MA. Seifi M, et al. Clin Genet. 2018 Jun;93(6):1123-1130. doi: 10.1111/cge.13148. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28972279 Review.
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including denta …
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anteri …
4,880 results