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Year Number of Results
1998 1
1999 3
2001 1
2020 0
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5 results
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Page 1
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, Kwee ML, de Ravel T, CG Mathew, et al. Wijker M, et al. Eur J Hum Genet. 1999 Jan;7(1):52-9. doi: 10.1038/sj.ejhg.5200248. Eur J Hum Genet. 1999. PMID: 10094191 Free article.
Frasier syndrome with childhood-onset renal failure.
Buzi F, Mella P, Pilotta A, Felappi B, Camerino G, Notarangelo LD. Buzi F, et al. Horm Res. 2001;55(2):77-80. doi: 10.1159/000049974. Horm Res. 2001. PMID: 11509863
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.
Centra M, Memeo E, d'Apolito M, Savino M, Ianzano L, Notarangelo A, Liu J, Doggett NA, Zelante L, Savoia A. Centra M, et al. Genomics. 1998 Aug 1;51(3):463-7. doi: 10.1006/geno.1998.5353. Genomics. 1998. PMID: 9721219
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
Waisfisz Q, Morgan NV, Savino M, de Winter JP, van Berkel CG, Hoatlin ME, Ianzano L, Gibson RA, Arwert F, Savoia A, Mathew CG, Pronk JC, Joenje H. Waisfisz Q, et al. Nat Genet. 1999 Aug;22(4):379-83. doi: 10.1038/11956. Nat Genet. 1999. PMID: 10431244
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