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Results by year

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

Year Number of Results
1951 1
1955 2
1958 4
1964 1
1967 1
1968 1
1970 2
1971 5
1972 1
1973 4
1974 4
1975 5
1976 3
1977 3
1978 1
1979 5
1980 1
1981 1
1982 1
1983 1
1986 1
1987 2
1988 6
1989 3
1990 6
1991 4
1992 3
1993 5
1994 2
1995 4
1996 3
1997 6
1998 6
1999 7
2000 4
2001 3
2002 6
2003 5
2004 4
2005 8
2006 2
2007 6
2008 7
2009 8
2010 6
2011 7
2012 6
2013 11
2014 9
2015 9
2016 10
2017 7
2018 9
2019 15
2020 5
2021 9
2022 9
2023 4
2024 3

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256 results

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Page 1
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Among authors: till m. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Toriello-Carey syndrome.
Till M, Bourgeois J, Plauchu H. Till M, et al. Am J Med Genet. 1997 Jun 13;70(3):332. doi: 10.1002/(sici)1096-8628(19970613)70:3<332::aid-ajmg23>3.0.co;2-l. Am J Med Genet. 1997. PMID: 9188677 No abstract available.
Children's teeth.
Till MJ, Simon WJ. Till MJ, et al. Dent Assist (1931). 1976 Jan;45(1):21-5. Dent Assist (1931). 1976. PMID: 1073722 No abstract available.
[New chromosomal syndromes].
Schluth-Bolard C, Till M, Edery P, Sanlaville D. Schluth-Bolard C, et al. Among authors: till m. Pathol Biol (Paris). 2008 Sep;56(6):380-7. doi: 10.1016/j.patbio.2008.03.006. Epub 2008 May 7. Pathol Biol (Paris). 2008. PMID: 18467039 Review. French.
Photocatalytic stannylation of white phosphorus.
Till M, Cammarata J, Wolf R, Scott DJ. Till M, et al. Chem Commun (Camb). 2022 Aug 9;58(64):8986-8989. doi: 10.1039/d2cc03474c. Chem Commun (Camb). 2022. PMID: 35861572 Free PMC article.
[se-atlas.de-Medical care atlas for people with rare diseases].
Neff M, Schaaf J, Tegtbauer N, Schäfer J, Till M, Wagner TOF, Graeßner H, Mundlos C, Storf H. Neff M, et al. Among authors: till m. Internist (Berl). 2021 Oct;62(10):1115-1122. doi: 10.1007/s00108-021-01085-y. Epub 2021 Jul 20. Internist (Berl). 2021. PMID: 34283250 Free PMC article. Review. German.
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: till m. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365 Free article.
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F. Guterman S, et al. Among authors: till m. Prenat Diagn. 2019 Sep;39(10):871-882. doi: 10.1002/pd.5498. Epub 2019 Jul 5. Prenat Diagn. 2019. PMID: 31172545 Review.
256 results