about
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingGenotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesFAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.A painted staircase illusion to alleviate freezing of gait in Parkinson's disease.Normal eyeblink classical conditioning in patients with fixed dystonia.Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.Validation of the Auditory Stroop Task to increase cognitive load in walking tasks in healthy elderly and persons with Parkinson's diseaseThe Beneficial Effects of Conventional Visual Cues Are Retained When Augmented Reality Glasses Are Worn
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Q24294774-34AA9141-82D4-4235-806E-FA1D652460ECQ33682550-21BDA1C8-314E-4197-93F8-045E6E3F5696Q34286677-65B7A73E-881F-47BC-8CAD-234F0375BC7CQ36823120-9EC23952-D581-4F43-91BD-4F9463B16E05Q37552382-ACDB419A-187E-431A-B0C1-F10C9F07FEC2Q37678462-599E5A4C-7531-4D57-B74F-8820690C2110Q48202881-3182922F-CF46-4E47-8C99-426CF6C4D87EQ50682802-9BEF5957-61ED-44D6-B5CD-D8985C039EE1Q51848427-3D573912-C0F1-453C-A463-FBCF4BAD9024Q92451480-1261EC86-FB07-4767-BD3B-777A034919BDQ93166012-401C3AC5-BEB0-4173-9F27-22BD0361547C
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Sabine Janssen
@ast
Sabine Janssen
@en
Sabine Janssen
@es
Sabine Janssen
@nl
Sabine Janssen
@sl
type
label
Sabine Janssen
@ast
Sabine Janssen
@en
Sabine Janssen
@es
Sabine Janssen
@nl
Sabine Janssen
@sl
prefLabel
Sabine Janssen
@ast
Sabine Janssen
@en
Sabine Janssen
@es
Sabine Janssen
@nl
Sabine Janssen
@sl
P1053
F-2917-2016
P106
P21
P31
P3829
P496
0000-0001-8470-3050