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

Year Number of Results
2000 1
2003 1
2006 1
2007 1
2009 3
2010 3
2011 7
2012 6
2013 7
2014 9
2015 3
2024 0

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PubMed (Bookshelf cited) for id: 414066

36 results

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Page 1
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.
Desplantes C, Fremond ML, Beaupain B, Harousseau JL, Buzyn A, Pellier I, Roques G, Morville P, Paillard C, Bruneau J, Pinson L, Jeziorski E, Vannier JP, Picard C, Bellanger F, Romero N, de Pontual L, Lapillonne H, Lutz P, Chantelot CB, Donadieu J. Desplantes C, et al. Orphanet J Rare Dis. 2014 Dec 10;9:183. doi: 10.1186/s13023-014-0183-8. Orphanet J Rare Dis. 2014. PMID: 25491320 Free PMC article.
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H. Lebel A, et al. Pediatr Blood Cancer. 2015 Jan;62(1):103-8. doi: 10.1002/pbc.25251. Epub 2014 Oct 4. Pediatr Blood Cancer. 2015. PMID: 25284454
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C. Boztug K, et al. Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17. Nat Genet. 2014. PMID: 25129144 Free PMC article.
Testicular failure in a patient with G6PC3 deficiency.
Yeshayahu Y, Asaf R, Dubnov-Raz G, Schiby G, Simon AJ, Lev A, Somech R. Yeshayahu Y, et al. Pediatr Res. 2014 Aug;76(2):197-201. doi: 10.1038/pr.2014.64. Epub 2014 May 5. Pediatr Res. 2014. PMID: 24796372
36 results