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

Year Number of Results
1970 2
1972 1
1973 1
1974 2
1975 2
1978 3
1979 3
1980 5
1981 4
1982 4
1983 2
1984 2
1985 2
1986 2
1987 2
1988 4
1990 3
1991 6
1992 4
1993 4
1996 2
1997 3
1998 1
1999 4
2000 1
2001 1
2002 1
2003 5
2004 1
2005 3
2006 2
2007 3
2008 4
2010 4
2011 6
2012 4
2013 1
2014 2
2015 5
2016 3
2018 3
2019 7
2020 1
2021 4
2022 4
2023 2
2024 2

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Search Results

129 results

Results by year

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Page 1
Centromeric linkage.
Ferguson-Smith MA, Ellis PM, Mutchinick O, Glen KP, Côté GB, Edwards JH. Ferguson-Smith MA, et al. Among authors: mutchinick o. Cytogenet Cell Genet. 1975;14(3-6):300-7. doi: 10.1159/000130369. Cytogenet Cell Genet. 1975. PMID: 1192807 No abstract available.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: mutchinick om. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
The role of the X chromosome in immunity and autoimmunity.
Hernández-Molina G, Svyryd Y, Sánchez-Guerrero J, Mutchinick OM. Hernández-Molina G, et al. Among authors: mutchinick om. Autoimmun Rev. 2007 Mar;6(4):218-22. doi: 10.1016/j.autrev.2006.08.004. Epub 2006 Aug 28. Autoimmun Rev. 2007. PMID: 17317611 Review.
X chromosome monosomy in primary and overlapping autoimmune diseases.
Svyryd Y, Hernández-Molina G, Vargas F, Sánchez-Guerrero J, Segovia DA, Mutchinick OM. Svyryd Y, et al. Among authors: mutchinick om. Autoimmun Rev. 2012 Mar;11(5):301-4. doi: 10.1016/j.autrev.2010.03.001. Epub 2010 Mar 15. Autoimmun Rev. 2012. PMID: 20230920 Review.
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.
Franzka P, Henze H, Jung MJ, Schüler SC, Mittag S, Biskup K, Liebmann L, Kentache T, Morales J, Martínez B, Katona I, Herrmann T, Huebner AK, Hennings JC, Groth S, Gresing L, Horstkorte R, Marquardt T, Weis J, Kaether C, Mutchinick OM, Ori A, Huber O, Blanchard V, von Maltzahn J, Hübner CA. Franzka P, et al. Among authors: mutchinick om. J Clin Invest. 2021 May 3;131(9):e139076. doi: 10.1172/JCI139076. J Clin Invest. 2021. PMID: 33755596 Free PMC article.
Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.
Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC. Feldkamp ML, et al. Among authors: mutchinick om. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43. doi: 10.1002/ajmg.c.30317. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002951 Review.
Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research.
Mutchinick OM, Luna-Muñoz L, Amar E, Bakker MK, Clementi M, Cocchi G, da Graça Dutra M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry B, Marengo LK, Martínez-Frías ML, Mastroiacovo P, Métneki J, Morgan M, Pierini A, Rissman A, Ritvanen A, Scarano G, Siffel C, Szabova E, Arteaga-Vázquez J. Mutchinick OM, et al. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):274-87. doi: 10.1002/ajmg.c.30321. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002822 Free PMC article. Review.
Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.
Orioli IM, Amar E, Bakker MK, Bermejo-Sánchez E, Bianchi F, Canfield MA, Clementi M, Correa A, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Orioli IM, et al. Among authors: mutchinick om. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):344-57. doi: 10.1002/ajmg.c.30323. Epub 2011 Oct 17. Am J Med Genet C Semin Med Genet. 2011. PMID: 22006661 Free PMC article. Review.
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML. Bermejo-Sánchez E, et al. Among authors: mutchinick om. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002800 Free PMC article. Review.
Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.
Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS. Siffel C, et al. Among authors: mutchinick om. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):321-32. doi: 10.1002/ajmg.c.30316. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002949 Free PMC article. Review.
129 results