All screenings for gene ALMS1

94 entries on 1 page. Showing entries 1 - 94.
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Screening ID

Individual ID

Template

Technique

Tissue

Remarks

Variants found

Owner
0000034590 00034519 DNA SEQ;SEQ-NG - - 1 Xia Wang
0000046563 00046458 DNA arraySNP;SEQ-NG - - 3 Johan den Dunnen
0000050622 00050677 DNA SEQ;SEQ-NG-I - - 2 Johan den Dunnen
0000073325 00073166 DNA arraySNP;SEQ - - 3 Pieter Klap
0000081135 00081023 DNA SEQ;SEQ-NG - - 1 Daniel Trujillano
0000156245 00155380 DNA SEQ - - 1 Dror Sharon
0000289376 00288207 DNA;RNA RT-PCR;SEQ;SEQ-NG - WES 1 Johan den Dunnen
0000309618 00308473 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000309619 00308474 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000310090 00308945 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000310091 00308946 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000310092 00308947 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000310093 00308948 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000325861 00315500 DNA SEQ-NG-I - - 1 Cordula Haas
0000326636 00325425 DNA SEQ;SEQ-NG - 199 gene panel 2 Johan den Dunnen
0000329506 00328291 DNA SEQ-NG - WGS 1 LOVD
0000332948 00331729 DNA SEQ;SEQ-NG - - 1 LOVD
0000332949 00331730 DNA SEQ;SEQ-NG - - 2 LOVD
0000332950 00331731 DNA SEQ;SEQ-NG - - 2 LOVD
0000333507 00332287 DNA SEQ-NG - 300-gene panel 2 LOVD
0000360038 00358808 DNA arrayCGH;PCRlr;SEQ-NG - - 3 LOVD
0000360060 00358830 DNA SEQ-NG-I - - 2 Andreas Laner
0000360150 00358917 DNA SEQ-NG - gene panel 2 LOVD
0000363310 00362081 DNA SEQ-NG - WES 1 Johan den Dunnen
0000363311 00362082 DNA SEQ-NG - WES 2 Johan den Dunnen
0000363312 00362083 DNA SEQ-NG - WES 1 Johan den Dunnen
0000363313 00362084 DNA SEQ-NG - WES 2 Johan den Dunnen
0000363314 00362085 DNA SEQ-NG - WES 2 Johan den Dunnen
0000364149 00362921 DNA SEQ-NG - WES 1 LOVD
0000364839 00363611 DNA SEQ-NG - gene panel 1 LOVD
0000364857 00363629 DNA SEQ-NG - gene panel 1 LOVD
0000364861 00363633 DNA SEQ-NG - gene panel 1 LOVD
0000364892 00363664 DNA SEQ-NG - gene panel 1 LOVD
0000364932 00363704 DNA SEQ-NG - gene panel 1 LOVD
0000373732 00372499 DNA SEQ-NG - 163-gene panel 2 LOVD
0000373734 00372501 DNA SEQ-NG - 163-gene panel 1 LOVD
0000373735 00372502 DNA SEQ-NG - 163-gene panel 1 LOVD
0000373738 00372505 DNA SEQ-NG - 163-gene panel 2 LOVD
0000373739 00372506 DNA SEQ-NG - 163-gene panel 2 LOVD
0000373740 00372507 DNA SEQ-NG - 163-gene panel 2 LOVD
0000373742 00372509 DNA SEQ-NG - 163-gene panel 2 LOVD
0000374732 00373497 DNA SEQ-NG - 316-gene panel 2 LOVD
0000374744 00373509 DNA SEQ-NG - 316-gene panel 4 LOVD
0000375115 00373883 DNA SEQ-NG - 238-gene panel 2 LOVD
0000381012 00379810 DNA SEQ-NG - exome sequencing 2 LOVD
0000382451 00381236 DNA SEQ-NG blood - 2 Martin Zenker, Prof. Dr. med.
0000382453 00381238 DNA SEQ-NG blood - 1 Martin Zenker, Prof. Dr. med.
0000383694 00382480 DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data 1 LOVD
0000384376 00383152 DNA;RNA arraySNP;PCR blood - 1 LOVD
0000384377 00383153 DNA;RNA arraySNP;PCR blood - 1 LOVD
0000384633 00383408 DNA ? - retrospective study 1 LOVD
0000385480 00384255 DNA SEQ-NG blood panel of 126 genes 2 LOVD
0000385486 00384261 DNA SEQ-NG blood panel of 126 genes 2 LOVD
0000385489 00384264 DNA SEQ-NG blood panel of 126 genes 2 LOVD
0000385500 00384275 DNA SEQ-NG blood panel of 126 genes 2 LOVD
0000385530 00384305 DNA SEQ-NG blood panel of 126 genes 1 LOVD
0000385559 00384334 DNA SEQ-NG blood panel of 126 genes 2 LOVD
0000386219 00384990 DNA SEQ-NG - targeted next-generation sequencing 2 LOVD
0000386220 00384991 DNA SEQ-NG - targeted next-generation sequencing 2 LOVD
0000386307 00385078 DNA SEQ-NG;SEQ - targeted next-generation sequencing/Sanger sequencing 2 LOVD
0000386311 00385082 DNA SEQ-NG - targeted next-generation sequencing 2 LOVD
0000386456 00385227 DNA arrayCNV;SEQ blood - 1 LOVD
0000386460 00385231 DNA arrayCNV;SEQ blood - 4 LOVD
0000386461 00385232 DNA arrayCNV;SEQ blood - 3 LOVD
0000386464 00385235 DNA arrayCNV;SEQ blood - 2 LOVD
0000387179 00385951 DNA SEQ - - 1 LOVD
0000387180 00385952 DNA SEQ - - 1 LOVD
0000387181 00385953 DNA SEQ - - 1 LOVD
0000387182 00385954 DNA SEQ - - 1 LOVD
0000387921 00386693 DNA SEQ-NG-I;SEQ blood - 2 LOVD
0000389114 00387883 DNA SEQ;SEQ-NG - - 1 Johan den Dunnen
0000389268 00388029 DNA SEQ-NG;arrayCGH;SEQ blood - 2 LOVD
0000389777 00388535 DNA SEQ-NG-I;SEQ blood whole exome sequencing 2 LOVD
0000389778 00388536 DNA SEQ-NG-I;SEQ blood whole exome sequencing 1 LOVD
0000389779 00388537 DNA SEQ-NG-I;SEQ blood whole exome sequencing 1 LOVD
0000390333 00389090 DNA SEQ blood Sanger sequencing 2 LOVD
0000390334 00389091 DNA SEQ-NG blood RET8 targeted sequencing panel - see paper 2 LOVD
0000390472 00389229 DNA SEQ-NG blood RET1 targeted sequencing panel - see paper 2 LOVD
0000390500 00389257 DNA SEQ-NG blood RET3 targeted sequencing panel - see paper 2 LOVD
0000390539 00389296 DNA SEQ-NG blood RET6 targeted sequencing panel - see paper 1 LOVD
0000390570 00389327 DNA SEQ-NG blood RET4 targeted sequencing panel - see paper 2 LOVD
0000390640 00389397 DNA SEQ-NG blood RET8 targeted sequencing panel - see paper 2 LOVD
0000390641 00389398 DNA SEQ-NG blood RET8 targeted sequencing panel - see paper 2 LOVD
0000390857 00389614 DNA SEQ-NG blood RET9 targeted sequencing panel - see paper 2 LOVD
0000391404 00390163 DNA SEQ-NG-I blood whole genome sequencing 1 LOVD
0000391706 00390465 DNA SEQ-NG-I blood whole genome sequencing 1 LOVD
0000392789 00391547 DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families 1 LOVD
0000392790 00391548 DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families 2 LOVD
0000392791 00391549 DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families 2 LOVD
0000393515 00392273 DNA SEQ-NG blood targeted next-generation sequencing 2 LOVD
0000394750 00393502 DNA SEQ-NG - WES 2 LOVD
0000395102 00393854 DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) 2 LOVD
0000395604 00394357 DNA SEQ-NG - retrospective analysis 1 LOVD
0000395605 00394358 DNA SEQ-NG - retrospective analysis 1 LOVD
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