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

Year Number of Results
1972 1
1978 1
1979 2
1980 3
1981 5
1982 2
1983 3
1984 1
1985 1
1986 5
1987 9
1988 8
1989 5
1990 6
1991 9
1992 15
1993 12
1994 9
1995 4
1996 6
1997 19
1998 6
1999 12
2000 7
2001 5
2002 9
2003 6
2004 5
2005 8
2006 3
2007 7
2008 13
2009 5
2010 5
2011 8
2012 4
2013 2
2014 5
2015 5
2016 2
2017 3
2018 2
2020 1
2021 4
2022 1
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Search Results

240 results
Results by year
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Page 1
Donnai-Barrow Syndrome.
Longoni M, Kantarci S, Donnai D, Pober BR. Longoni M, et al. Among authors: donnai d. 2008 Aug 28 [updated 2018 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2008 Aug 28 [updated 2018 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301732 Free Books & Documents. Review.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. den Hoed J, et al. Among authors: donnai d. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28. Am J Hum Genet. 2021. PMID: 33513338 Free PMC article.
Dysmorphology demystified.
Reardon W, Donnai D. Reardon W, et al. Among authors: donnai d. Arch Dis Child Fetal Neonatal Ed. 2007 May;92(3):F225-9. doi: 10.1136/adc.2006.110619. Arch Dis Child Fetal Neonatal Ed. 2007. PMID: 17449858 Free PMC article. Review. No abstract available.
Genetic services.
Donnai D. Donnai D. Clin Genet. 2002 Jan;61(1):1-6. doi: 10.1034/j.1399-0004.2002.610101.x. Clin Genet. 2002. PMID: 11903347 Review.
Dysmorphic disorders--an overview.
Donnai D. Donnai D. J Inherit Metab Dis. 1994;17(4):442-7. doi: 10.1007/BF00711359. J Inherit Metab Dis. 1994. PMID: 7967494 Review.
Dysmorphology and the ESHG.
Donnai D. Donnai D. Eur J Hum Genet. 2017 Dec;25(s2):S33-S34. doi: 10.1038/ejhg.2017.161. Eur J Hum Genet. 2017. PMID: 29297884 Free PMC article. No abstract available.
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
Landy SJ, Donnai D. Landy SJ, et al. Among authors: donnai d. J Med Genet. 1993 Jan;30(1):53-9. doi: 10.1136/jmg.30.1.53. J Med Genet. 1993. PMID: 8423608 Free PMC article. Review. No abstract available.
Floating-Harbor syndrome.
Patton MA, Hurst J, Donnai D, McKeown CM, Cole T, Goodship J. Patton MA, et al. Among authors: donnai d. J Med Genet. 1991 Mar;28(3):201-4. doi: 10.1136/jmg.28.3.201. J Med Genet. 1991. PMID: 2051457 Free PMC article. No abstract available.
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Kantarci S, et al. Among authors: donnai d. Nat Genet. 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632512 Free PMC article.
X linked hydrocephalus and MASA syndrome.
Kenwrick S, Jouet M, Donnai D. Kenwrick S, et al. Among authors: donnai d. J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59. J Med Genet. 1996. PMID: 8825051 Free PMC article. Review.
240 results