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

Year Number of Results
1957 1
1960 1
1962 1
1964 2
1966 3
1967 2
1968 2
1969 1
1970 1
1973 1
1974 1
1975 2
1978 2
1979 1
1980 2
1983 2
1984 1
1986 1
1989 1
1992 1
1994 2
1996 1
1998 1
1999 1
2008 3
2009 3
2010 6
2011 7
2012 7
2013 8
2014 11
2015 10
2016 12
2017 15
2018 14
2019 11
2020 7
2021 7
2022 1
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Search Results

140 results
Results by year
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Page 1
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Bazazzadegan N, Vazehan R, Fadaee M, Fattahi Z, Abolhassani A, Parsimehr E, Kalhor Z, Faraji Zonooz M, Ahangari F, Dehdahsi S, Samiee F, Jamali P, Habibi H, Nourizadeh Y, Mahdavi S, Beheshtian M, Kariminejad A, Smith RJ, Najmabadi H. Bazazzadegan N, et al. Among authors: kariminejad a. Iran J Public Health. 2019 Oct;48(10):1910-1915. Iran J Public Health. 2019. PMID: 31850270 Free PMC article.
NGLY1 deficiency: Novel variants and literature review.
Kariminejad A, Shakiba M, Shams M, Namiranian P, Eghbali M, Talebi S, Makvand M, Jaeken J, Najmabadi H, Hennekam RC. Kariminejad A, et al. Eur J Med Genet. 2021 Mar;64(3):104146. doi: 10.1016/j.ejmg.2021.104146. Epub 2021 Jan 23. Eur J Med Genet. 2021. PMID: 33497766 Review.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Among authors: kariminejad a. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC. Kariminejad A, et al. Am J Med Genet A. 2019 Aug;179(8):1547-1555. doi: 10.1002/ajmg.a.61260. Epub 2019 Jun 11. Am J Med Genet A. 2019. PMID: 31184804 Review.
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: kariminejad a. Matrix Biol. 2021 May;99:43-57. doi: 10.1016/j.matbio.2021.05.002. Epub 2021 May 15. Matrix Biol. 2021. PMID: 34004352
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J. Kahrizi K, et al. Among authors: kariminejad a. Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9. Am J Med Genet A. 2019. PMID: 31069901
140 results