Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

515 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.
Baardman R, Lemmink HH, Yenamandra VK, Commandeur-Jan SZ, Viel M, Kooi KA, Diercks GFH, Meijer R, van Geel M, Scheffer H, Sinke RJ, Sikkema-Raddatz B, Bolling MC, van den Akker PC. Baardman R, et al. Among authors: meijer r. J Eur Acad Dermatol Venereol. 2025 Jan;39(1):154-160. doi: 10.1111/jdv.19938. Epub 2024 Mar 11. J Eur Acad Dermatol Venereol. 2025. PMID: 38465480 Free PMC article.
Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
Kiritsi D, Garcia M, Brander R, Has C, Meijer R, Jose Escámez M, Kohlhase J, van den Akker PC, Scheffer H, Jonkman MF, Del Rio M, Bruckner-Tuderman L, Pasmooij AMG. Kiritsi D, et al. Among authors: meijer r. J Invest Dermatol. 2014 Aug;134(8):2097-2104. doi: 10.1038/jid.2014.118. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577406 Free article.
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF. van den Akker PC, et al. Among authors: meijer g, meijer r. J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8. J Dermatol Sci. 2009. PMID: 19665875
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B. Neveling K, et al. Among authors: meijer r. Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664116 Free PMC article.
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ. van de Warrenburg BP, et al. Among authors: meijer r. Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165006 Free PMC article.
515 results