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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2007 | 1 |
2015 | 1 |
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2024 | 0 |
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Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D.
Kalb R, et al.
Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6.
Am J Hum Genet. 2007.
PMID: 17436244
Free PMC article.
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Clinical application of whole-exome sequencing across clinical indications.
Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S.
Retterer K, et al.
Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.
Genet Med. 2016.
PMID: 26633542
Free article.
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Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia.
Al Jabri A, Al Naim N, Al Dossari A.
Al Jabri A, et al.
Case Rep Endocrinol. 2021 Jul 16;2021:6686312. doi: 10.1155/2021/6686312. eCollection 2021.
Case Rep Endocrinol. 2021.
PMID: 34327028
Free PMC article.
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