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

Year Number of Results
1973 1
1985 2
1987 1
1998 1
2003 3
2005 1
2007 3
2008 1
2009 3
2010 2
2011 6
2012 4
2013 4
2014 4
2015 3
2016 7
2018 2
2019 4
2020 6
2021 13
2022 12
2023 17
2024 7

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95 results

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Page 1
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: moldovan o. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: moldovan o. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Brazilian cave heritage under siege.
Ferreira RL, Bernard E, da Cruz Júnior FW, Piló LB, Calux A, Souza-Silva M, Barlow J, Pompeu PS, Cardoso P, Mammola S, García AM, Jeffery WR, Shear W, Medellín RA, Wynne JJ, Borges PAV, Kamimura Y, Pipan T, Hajna NZ, Sendra A, Peck S, Onac BP, Culver DC, Hoch H, Flot JF, Stoch F, Pavlek M, Niemiller ML, Manchi S, Deharveng L, Fenolio D, Calaforra JM, Yager J, Griebler C, Nader FH, Humphreys WF, Hughes AC, Fenton B, Forti P, Sauro F, Veni G, Frumkin A, Gavish-Regev E, Fišer C, Trontelj P, Zagmajster M, Delic T, Galassi DMP, Vaccarelli I, Komnenov M, Gainett G, da Cunha Tavares V, Kováč Ľ, Miller AZ, Yoshizawa K, Di Lorenzo T, Moldovan OT, Sánchez-Fernández D, Moutaouakil S, Howarth F, Bilandžija H, Dražina T, Kuharić N, Butorac V, Lienhard C, Cooper SJB, Eme D, Strauss AM, Saccò M, Zhao Y, Williams P, Tian M, Tanalgo K, Woo KS, Barjakovic M, McCracken GF, Simmons NB, Racey PA, Ford D, Labegalini JA, Colzato N, Ramos Pereira MJ, Aguiar LMS, Moratelli R, Du Preez G, Pérez-González A, Reboleira ASPS, Gunn J, Mc Cartney A, Bobrowiec PED, Milko D, Kinuthia W, Fischer E, Meierhofer MB, Frick WF. Ferreira RL, et al. Among authors: moldovan ot. Science. 2022 Mar 18;375(6586):1238-1239. doi: 10.1126/science.abo1973. Epub 2022 Mar 17. Science. 2022. PMID: 35298256 No abstract available.
The dilemma of self-citation in taxonomy.
Zeppelini D, Dal Molin A, Lamas CJE, Sarmiento C, Rheims CA, Fernandes DRR, Lima EFB, Silva EN, Carvalho-Filho F, Kováč Ľ, Montoya-Lerma J, Moldovan OT, Souza-Dias PGB, Demite PR, Feitosa RM, Boyer SL, Weiner WM, Rodrigues WC. Zeppelini D, et al. Among authors: moldovan ot. Nat Ecol Evol. 2021 Jan;5(1):2. doi: 10.1038/s41559-020-01359-y. Nat Ecol Evol. 2021. PMID: 33173203 No abstract available.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: moldovan o. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
Towards evidence-based conservation of subterranean ecosystems.
Mammola S, Meierhofer MB, Borges PAV, Colado R, Culver DC, Deharveng L, Delić T, Di Lorenzo T, Dražina T, Ferreira RL, Fiasca B, Fišer C, Galassi DMP, Garzoli L, Gerovasileiou V, Griebler C, Halse S, Howarth FG, Isaia M, Johnson JS, Komerički A, Martínez A, Milano F, Moldovan OT, Nanni V, Nicolosi G, Niemiller ML, Pallarés S, Pavlek M, Piano E, Pipan T, Sanchez-Fernandez D, Santangeli A, Schmidt SI, Wynne JJ, Zagmajster M, Zakšek V, Cardoso P. Mammola S, et al. Among authors: moldovan ot. Biol Rev Camb Philos Soc. 2022 Aug;97(4):1476-1510. doi: 10.1111/brv.12851. Epub 2022 Mar 21. Biol Rev Camb Philos Soc. 2022. PMID: 35315207 Free PMC article.
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: moldovan o. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
95 results