Kim D Falkenberg
Overview
Explore the profile of Kim D Falkenberg including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
968
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Recent Articles
11.
Ferdinandusse S, Falkenberg K, Koster J, Mooyer P, Jones R, van Roermund C, et al.
J Med Genet
. 2016 Nov;
54(5):330-337.
PMID: 27799409
Background: Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA binding domain, ACBD5 has been assumed to...
12.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi I, Falkenberg K, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, et al.
Am J Hum Genet
. 2015 Sep;
97(4):535-45.
PMID: 26387595
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. We ascertained eight families affected by...