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

Year Number of Results
1983 1
1984 1
1986 2
1987 1
1989 1
1990 2
1991 1
1992 2
1993 5
1994 4
1995 2
1996 5
1997 3
1998 5
1999 4
2000 1
2001 2
2002 3
2003 5
2004 5
2005 3
2006 11
2007 9
2008 11
2009 10
2010 15
2011 14
2012 12
2013 14
2014 18
2015 15
2016 11
2017 7
2018 15
2019 12
2020 15
2021 11
2022 13
2023 1
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Search Results

239 results
Results by year
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Page 1
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Harris HK, et al. Among authors: grammatico p. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. Genet Med. 2021. PMID: 33658631 Free PMC article.
Genetic skin diseases predisposing to basal cell carcinoma.
Castori M, Morrone A, Kanitakis J, Grammatico P. Castori M, et al. Among authors: grammatico p. Eur J Dermatol. 2012 May-Jun;22(3):299-309. doi: 10.1684/ejd.2011.1633. Eur J Dermatol. 2012. PMID: 22391625 Review.
Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.
Castori M, Morlino S, Ghibellini G, Celletti C, Camerota F, Grammatico P. Castori M, et al. Among authors: grammatico p. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):84-96. doi: 10.1002/ajmg.c.31426. Epub 2015 Feb 5. Am J Med Genet C Semin Med Genet. 2015. PMID: 25655119 Review.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: grammatico p. Eur J Hum Genet. 2022 Dec 19. doi: 10.1038/s41431-022-01270-z. Online ahead of print. Eur J Hum Genet. 2022. PMID: 36529819
Vaginoplasty for disorders of sex development.
Guarino N, Scommegna S, Majore S, Rapone AM, Ungaro L, Morrone A, Grammatico P, Marrocco GA. Guarino N, et al. Among authors: grammatico p. Front Endocrinol (Lausanne). 2013 Mar 11;4:29. doi: 10.3389/fendo.2013.00029. eCollection 2013. Front Endocrinol (Lausanne). 2013. PMID: 23483838 Free PMC article.
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Di Giosaffatte N, Bottillo I, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Di Giosaffatte N, et al. Among authors: grammatico p. Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506546 Free PMC article.
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Castori M, et al. Among authors: grammatico p. Am J Med Genet A. 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. Am J Med Genet A. 2006. PMID: 16761296 Review.
The nosology of Richieri-Costa/Guion-Almeida syndrome(s).
Castori M, Cascone P, Brinelli M, Iannetti G, Grammatico P. Castori M, et al. Among authors: grammatico p. Am J Med Genet A. 2011 Feb;155A(2):398-402. doi: 10.1002/ajmg.a.33805. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271661
239 results