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Results by year

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

Year Number of Results
1971 1
1974 1
1975 5
1976 2
1977 9
1978 5
1979 8
1980 11
1981 10
1982 9
1983 18
1984 14
1985 20
1986 16
1987 15
1988 9
1989 20
1990 17
1991 17
1992 29
1993 33
1994 24
1995 21
1996 32
1997 33
1998 37
1999 34
2000 39
2001 37
2002 37
2003 46
2004 49
2005 66
2006 88
2007 64
2008 66
2009 66
2010 86
2011 104
2012 117
2013 141
2014 139
2015 137
2016 142
2017 118
2018 161
2019 159
2020 186
2021 198
2022 177
2023 160
2024 21

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PubMed for id: 98409

2,722 results

Results by year

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Page 1
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Genet Med. 2023 Dec 27;26(4):101057. doi: 10.1016/j.gim.2023.101057. Online ahead of print. Genet Med. 2023. PMID: 38158856 Free article.
Facial dysmorphism in congenital rubella syndrome.
Chattannavar G, Bansal A, Kekunnaya R. Chattannavar G, et al. J AAPOS. 2023 Nov 7:S1091-8531(23)00235-5. doi: 10.1016/j.jaapos.2023.08.020. Online ahead of print. J AAPOS. 2023. PMID: 37939916
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly.
Chen CP, Huang JP, Chen YY, Chen SW, Chern SR, Wu PS, Wu FT, Pan YT, Chen WL, Pan CW, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2023 May;62(3):453-456. doi: 10.1016/j.tjog.2023.03.007. Taiwan J Obstet Gynecol. 2023. PMID: 37188453 Free article.
2,722 results