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

Year Number of Results
1964 1
1982 1
1993 3
1995 1
2000 1
2002 1
2003 2
2005 3
2006 1
2007 3
2008 1
2009 9
2010 8
2011 8
2012 12
2013 12
2014 15
2015 23
2016 15
2017 25
2018 22
2019 36
2020 38
2021 31
2022 26
2023 27
2024 3

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284 results

Results by year

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Page 1
The burden of rare diseases.
Ferreira CR. Ferreira CR. Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18. Am J Med Genet A. 2019. PMID: 30883013 Review.
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: ferreira cr. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427
Inborn errors of metabolism.
Ferreira CR, van Karnebeek CDM. Ferreira CR, et al. Handb Clin Neurol. 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. Handb Clin Neurol. 2019. PMID: 31324325 Review.
Primrose Syndrome.
Arora V, Ferreira CR, Dua Puri R, Verma IC. Arora V, et al. Among authors: ferreira cr. 2021 May 6 [updated 2021 Jun 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 May 6 [updated 2021 Jun 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33956417 Free Books & Documents. Review.
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: ferreira cr. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Lysosomal storage diseases.
Ferreira CR, Gahl WA. Ferreira CR, et al. Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Transl Sci Rare Dis. 2017. PMID: 29152458 Free PMC article. Review.
Recognizable phenotypes in CDG.
Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Ferreira CR, et al. J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13. J Inherit Metab Dis. 2018. PMID: 29654385 Free PMC article. Review.
2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM. Tumiene B, et al. Among authors: ferreira cr. Genes (Basel). 2022 Mar 12;13(3):508. doi: 10.3390/genes13030508. Genes (Basel). 2022. PMID: 35328062 Free PMC article. Review.
Disorders of metal metabolism.
Ferreira CR, Gahl WA. Ferreira CR, et al. Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015. Transl Sci Rare Dis. 2017. PMID: 29354481 Free PMC article. Review.
284 results