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

Year Number of Results
1952 1
1956 1
1957 8
1958 8
1959 7
1960 13
1961 28
1962 30
1964 3
1965 33
1966 68
1967 85
1968 112
1969 114
1970 152
1971 177
1972 143
1973 134
1974 155
1975 170
1976 199
1977 211
1978 197
1979 206
1980 206
1981 239
1982 230
1983 253
1984 278
1985 275
1986 231
1987 369
1988 319
1989 332
1990 380
1991 393
1992 503
1993 577
1994 537
1995 526
1996 601
1997 674
1998 594
1999 646
2000 716
2001 618
2002 530
2003 572
2004 603
2005 714
2006 725
2007 736
2008 797
2009 768
2010 820
2011 821
2012 839
2013 935
2014 935
2015 879
2016 877
2017 810
2018 809
2019 383
2020 8
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Search Results

23,783 results
Results by year
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Page 1
Beckwith-Wiedemann syndrome
Weksberg R, et al. Eur J Hum Genet 2010 - Review. PMID 19550435 Free PMC article.
Imprinted disorders and growth
Giabicani É, et al. Ann Endocrinol (Paris) 2017. PMID 28478949
The Helena syndromes
Neri G. Am J Med Genet A 2006 - Review. PMID 16906537
Ophthalmo-acromelic syndrome in an infant
Ürel-Demir G, et al. Eur J Med Genet 2019 - Review. PMID 31067494
Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum, ranging from mild microphthalmia to true anophthalmia. ...
Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findin …
Recurrent duplications of 17q12 associated with variable phenotypes
Mitchell E, et al. Am J Med Genet A 2015. PMID 26420380
Cardiac, ophthalmologic, growth, behavioral, and other abnormalities were each present in a subset of patients. The newly associated features potentially resulting from 17q12 duplication include height and weight above the 95th percentile, cataracts, microphthalmia, coloboma, astigmatism, tracheomalacia, cutaneous mosaicism, pectus excavatum, scoliosis, hypermobility, hypospadias, diverticulum of Kommerell, pyloric stenosis, and pseudohypoparathryoidism. ...
Cardiac, ophthalmologic, growth, behavioral, and other abnormalities were each present in a subset of patients. The newly associated …
Waardenburg syndrome
Read AP. Adv Otorhinolaryngol 2000 - Review. PMID 10868211
Phenocopy
Lenz W. Humangenetik 1970. PMID 5465540
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