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

Year Number of Results
1971 1
1983 1
1984 1
2005 1
2006 1
2007 1
2008 2
2009 2
2010 2
2011 3
2012 2
2013 1
2014 3
2015 6
2016 7
2017 6
2018 16
2019 15
2020 10
2021 6
2022 6
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77 results
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Page 1
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: martinez af. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: martinez af. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: martinez af. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
Human-Derived Organ-on-a-Chip for Personalized Drug Development.
Jodat YA, Kang MG, Kiaee K, Kim GJ, Martinez AFH, Rosenkranz A, Bae H, Shin SR. Jodat YA, et al. Among authors: martinez afh. Curr Pharm Des. 2018;24(45):5471-5486. doi: 10.2174/1381612825666190308150055. Curr Pharm Des. 2018. PMID: 30854951 Free PMC article. Review.
Molecular testing in holoprosencephaly.
Kruszka P, Martinez AF, Muenke M. Kruszka P, et al. Among authors: martinez af. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):187-193. doi: 10.1002/ajmg.c.31617. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29771000 Free PMC article.
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
Ekure EN, Adeyemo A, Liu H, Sokunbi O, Kalu N, Martinez AF, Owosela B, Tekendo-Ngongang C, Addissie YA, Olusegun-Joseph A, Ikebudu D, Berger SI, Muenke M, Han Z, Kruszka P. Ekure EN, et al. Among authors: martinez af. Circ Genom Precis Med. 2021 Feb;14(1):e003108. doi: 10.1161/CIRCGEN.120.003108. Epub 2021 Jan 15. Circ Genom Precis Med. 2021. PMID: 33448881 Free PMC article.
Mutations in sphingolipid metabolism genes are associated with ADHD.
Henriquez-Henriquez M, Acosta MT, Martinez AF, Vélez JI, Lopera F, Pineda D, Palacio JD, Quiroga T, Worgall TS, Deckelbaum RJ, Mastronardi C, Molina BSG; MTA Cooperative Group, Arcos-Burgos M, Muenke M. Henriquez-Henriquez M, et al. Among authors: martinez af. Transl Psychiatry. 2020 Jul 13;10(1):231. doi: 10.1038/s41398-020-00881-8. Transl Psychiatry. 2020. PMID: 32661301 Free PMC article.
Neural Plasticity in Obesity and Psychiatric Disorders.
Arcos-Burgos M, Acosta MT, Martinez AF, Muenke M, Enriori PJ, Mastronardi CA. Arcos-Burgos M, et al. Among authors: martinez af. Neural Plast. 2016;2016:6053871. doi: 10.1155/2016/6053871. Epub 2016 Apr 7. Neural Plast. 2016. PMID: 27144034 Free PMC article. No abstract available.
77 results