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

Year Number of Results
1976 1
1981 1
1982 1
1983 3
1984 1
1992 1
1995 1
1997 1
1998 3
1999 1
2000 2
2002 1
2003 3
2004 3
2005 1
2006 1
2008 2
2009 2
2015 1
2024 0

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29 results

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Page 1
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Phenotypic variability in the chromosome 9 ring.
Cavaliere ML, Rinaldi MM, Castelluccio P, Cioffi C, Vendemmia M, Vendemmia S. Cavaliere ML, et al. Among authors: rinaldi mm. Acta Biomed Ateneo Parmense. 1997;68 Suppl 1:85-9. Acta Biomed Ateneo Parmense. 1997. PMID: 10021722 Review.
Retinal degeneration associated with ectopia lentis.
Simonelli F, De Crecchio G, Testa F, Nunziata G, Mazzeo S, Romano N, Cavaliere L, Rinaldi MM, Rinaldi E. Simonelli F, et al. Among authors: rinaldi mm. Ophthalmic Genet. 1999 Jun;20(2):121-6. doi: 10.1076/opge.20.2.121.2292. Ophthalmic Genet. 1999. PMID: 10420198
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G. Guanciali-Franchi P, et al. Among authors: rinaldi mm. Am J Med Genet A. 2004 Jun 1;127A(2):144-8. doi: 10.1002/ajmg.a.20691. Am J Med Genet A. 2004. PMID: 15108201
SHOX mutations detected by FISH and direct sequencing in patients with short stature.
Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Petreschi F, Anzellotti MT, Pomilio M, Chiarelli F, Tumini S, Palka G. Stuppia L, et al. Among authors: rinaldi mm. J Med Genet. 2003 Feb;40(2):E11. doi: 10.1136/jmg.40.2.e11. J Med Genet. 2003. PMID: 12566529 Free PMC article. No abstract available.
A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs.
Crinò A, Di Giorgio G, Livieri C, Grugni G, Beccaria L, Bosio L, Corrias A, Chiumello G, Trifirò G, Salvatoni A, Tonini G, Gargantini L, de Toni T, Valerio G, Ragusa L, Franzese A, Rinaldi MM, Spera S, Gattinara GC, Villani S, Iughetti L; Genetic Obesity Study Group; Italian Society of Pediatric Endocrinology and Diabetology. Crinò A, et al. Among authors: rinaldi mm. J Pediatr Endocrinol Metab. 2009 Oct;22(10):883-93. doi: 10.1515/jpem.2009.22.10.883. J Pediatr Endocrinol Metab. 2009. PMID: 20020576
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. Bliek J, et al. Among authors: rinaldi mm. Eur J Hum Genet. 2009 May;17(5):611-9. doi: 10.1038/ejhg.2008.233. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092779 Free PMC article.
29 results