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Cremers, Frans
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ResearcherID: A-5625-2014
Other Names: Cremers, Frans P.M.; Cremers, F.P.M.
URL: http://www.researcherid.com/rid/A-5625-2014
ORCID: http://orcid.org/0000-0002-4954-5592
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This list contains papers that I have authored.

publication(s)  
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1.  Title: Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12
 Author(s): Bosch, Danielle G. M.; Boonstra, Frouke N.; Pfundt, Rolph; et al.
 Source: Clinical Dysmorphology Volume: 24 Issue: 1 Pages: 34-37 Published: 2015
 Times Cited: 0
 DOI: 10.1097/mcd.0000000000000062
added
02-Oct-15
2.  Title: Early-Onset Stargardt Disease Phenotypic and Genotypic Characteristics
 Author(s): Lambertus, Stanley; van Huet, Ramon A. C.; Bax, Nathalie M.; et al.
 Source: Ophthalmology Volume: 122 Issue: 2 Pages: 335-344 Published: 2015
 Times Cited: 32
 DOI: 10.1016/j.ophtha.2014.08.032
added
02-Oct-15
3.  Title: Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant
 Author(s): Bax, Nathalie M.; Sangermano, Riccardo; Roosing, Susanne; et al.
 Source: Human Mutation Volume: 36 Issue: 1 Pages: 43-47 Published: 2015
 Times Cited: 25
 DOI: 10.1002/humu.22717
added
02-Oct-15
4.  Title: Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
 Author(s): Maria, Maleeha; Ajmal, Muhammad; Azam, Maleeha; et al.
 Source: Plos One Volume: 10 Issue: 3 Published: 2015
 Times Cited: 11
 DOI: 10.1371/journal.pone.0119806
added
02-Oct-15
5.  Title: Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
 Author(s): Bujakowska, Kinga M.; Zhang, Qi; Siemiatkowska, Anna M.; et al.
 Source: Human Molecular Genetics Volume: 24 Issue: 1 Pages: 230-242 Published: 2015
 Times Cited: 57
 DOI: 10.1093/hmg/ddu441
added
02-Oct-15
6.  Title: Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy
 Author(s): Roosing, Susanne; van den Born, L. Ingeborgh; Sangermano, Riccardo; et al.
 Source: Ophthalmology Volume: 122 Issue: 1 Pages: 170-179 Published: 2015
 Times Cited: 22
 DOI: 10.1016/j.ophtha.2014.07.040
added
02-Oct-15
7.  Title: Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
 Author(s): Kohl, Susanne; Zobor, Ditta; Chiang, Wei-Chieh; et al.
 Source: Nature Genetics Volume: 47 Issue: 7 Pages: 757-+ Published: 2015
 Times Cited: 65
 DOI: 10.1038/ng.3319
added
02-Oct-15
8.  Title: Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia (vol 47, pg 757, 2015)
 Author(s): Kohl, Susanne; Zobor, Ditta; Chiang, Wei-Chieh; et al.
 Source: Nature Genetics Volume: 47 Issue: 7 Published: 2015
 Times Cited: 0
added
02-Oct-15
9.  Title: Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
 Author(s): Haer-Wigman, Lonneke; Newman, Hadas; Leibu, Rina; et al.
 Source: Human Molecular Genetics Volume: 24 Issue: 13 Pages: 3742-3751 Published: 2015
 Times Cited: 19
 DOI: 10.1093/hmg/ddv118
added
02-Oct-15
10.  Title: A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
 Author(s): Ajmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; et al.
 Source: Journal of Medical Genetics Volume: 51 Issue: 7 Pages: 444-448 Published: 2014
 Times Cited: 18
 DOI: 10.1136/jmedgenet-2014-102316
added
22-Oct-14
publication(s)  
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