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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1991 | 2 |
1993 | 1 |
2001 | 1 |
2003 | 1 |
2005 | 1 |
2024 | 0 |
PubMed for id: 346559
6 results
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Page 1
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340.
Am J Med Genet A. 2005.
PMID: 15690370
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM.
Aughton DJ, et al.
Am J Med Genet A. 2003 Jan 30;116A(3):255-60. doi: 10.1002/ajmg.a.10852.
Am J Med Genet A. 2003.
PMID: 12503102
Item in Clipboard
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG.
Rosenberg MJ, et al.
Hum Genet. 2001 Sep;109(3):311-8. doi: 10.1007/s004390100559.
Hum Genet. 2001.
PMID: 11702212
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Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family.
Aughton DJ.
Aughton DJ.
Clin Dysmorphol. 1993 Jan;2(1):55-61.
Clin Dysmorphol. 1993.
PMID: 8298739
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Single maxillary central incisor in a girl with del(18p) syndrome.
Aughton DJ, AlSaadi AA, Transue DJ.
Aughton DJ, et al.
J Med Genet. 1991 Aug;28(8):530-2. doi: 10.1136/jmg.28.8.530.
J Med Genet. 1991.
PMID: 1920368
Free PMC article.
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Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.
Aughton DJ, Cassidy SB, Whiteman DA, Delach JA, Guttmacher AE.
Aughton DJ, et al.
Am J Med Genet. 1991 Sep 15;40(4):440-3. doi: 10.1002/ajmg.1320400412.
Am J Med Genet. 1991.
PMID: 1746608
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