000 01913 a2200625 4500
005 20250516080142.0
264 0 _c20120906
008 201209s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.22045
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNeveling, Kornelia
245 0 0 _aNext-generation genetic testing for retinitis pigmentosa.
_h[electronic resource]
260 _bHuman mutation
_cJun 2012
300 _a963-72 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlleles
650 0 4 _aComputational Biology
_xmethods
650 0 4 _aFemale
650 0 4 _aGenetic Variation
650 0 4 _aGenotype
650 0 4 _aHigh-Throughput Nucleotide Sequencing
_xmethods
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aQuality Control
650 0 4 _aReproducibility of Results
650 0 4 _aRetinitis Pigmentosa
_xdiagnosis
700 1 _aCollin, Rob W J
700 1 _aGilissen, Christian
700 1 _avan Huet, Ramon A C
700 1 _aVisser, Linda
700 1 _aKwint, Michael P
700 1 _aGijsen, Sabine J
700 1 _aZonneveld, Marijke N
700 1 _aWieskamp, Nienke
700 1 _ade Ligt, Joep
700 1 _aSiemiatkowska, Anna M
700 1 _aHoefsloot, Lies H
700 1 _aBuckley, Michael F
700 1 _aKellner, Ulrich
700 1 _aBranham, Kari E
700 1 _aden Hollander, Anneke I
700 1 _aHoischen, Alexander
700 1 _aHoyng, Carel
700 1 _aKlevering, B Jeroen
700 1 _avan den Born, L Ingeborgh
700 1 _aVeltman, Joris A
700 1 _aCremers, Frans P M
700 1 _aScheffer, Hans
773 0 _tHuman mutation
_gvol. 33
_gno. 6
_gp. 963-72
856 4 0 _uhttps://doi.org/10.1002/humu.22045
_zAvailable from publisher's website
999 _c21545263
_d21545263