All screenings for gene BBS7

98 entries on 1 page. Showing entries 1 - 98.
No sorting possible Legend   How to query  

Screening ID

Individual ID

Template

Technique

Tissue

Remarks

Variants found

Owner
0000046564 00046459 DNA SEQ - - 1 Evgeny Suspitsin
0000050528 00050583 DNA SEQ;SEQ-NG-I - - 2 Johan den Dunnen
0000166105 00165229 DNA PCR - - 1 Sheila Castro-Sánchez
0000240245 00239141 DNA SEQ-NG - - 2 Sadaf Naz
0000267032 00265912 DNA SEQ - - 2 Johan den Dunnen
0000267033 00265913 DNA SEQ - - 2 Sadaf Naz
0000277473 00276326 DNA SEQ-NG-I Blood WES and Sanger 1 Evren Gümüş
0000310114 00308969 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000310115 00308970 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000329719 00328504 DNA SEQ-NG - gene panel 1 LOVD
0000360041 00358811 DNA arrayCGH;PCRlr;SEQ-NG - - 6 LOVD
0000360044 00358814 DNA arrayCGH;PCRlr;SEQ-NG - - 4 LOVD
0000360047 00358817 DNA arrayCGH;PCRlr;SEQ-NG - - 4 LOVD
0000364661 00363433 DNA SEQ-NG - gene panel 1 LOVD
0000364663 00363435 DNA SEQ-NG - gene panel 1 LOVD
0000364818 00363590 DNA SEQ-NG - gene panel 1 LOVD
0000364827 00363599 DNA SEQ-NG - gene panel 1 LOVD
0000375113 00373881 DNA SEQ-NG - 238-gene panel 2 LOVD
0000380547 00379347 DNA SEQ blood - 1 LOVD
0000380548 00379348 DNA SEQ blood - 1 LOVD
0000380549 00379349 DNA SEQ blood - 1 LOVD
0000380550 00379350 DNA SEQ blood - 1 LOVD
0000380551 00379351 DNA SEQ blood - 1 LOVD
0000380552 00379352 DNA SEQ blood - 1 LOVD
0000380553 00379353 DNA SEQ blood - 1 LOVD
0000380554 00379354 DNA SEQ blood - 1 LOVD
0000380555 00379355 DNA SEQ blood - 1 LOVD
0000380556 00379356 DNA SEQ blood - 1 LOVD
0000380557 00379357 DNA SEQ blood - 1 LOVD
0000380558 00379358 DNA SEQ blood - 1 LOVD
0000380559 00379359 DNA SEQ blood - 1 LOVD
0000380560 00379360 DNA SEQ blood - 1 LOVD
0000380561 00379361 DNA SEQ blood - 1 LOVD
0000380562 00379362 DNA SEQ blood - 1 LOVD
0000380563 00379363 DNA SEQ blood - 1 LOVD
0000380564 00379364 DNA SEQ blood - 1 LOVD
0000380565 00379365 DNA SEQ blood - 1 LOVD
0000380566 00379366 DNA SEQ blood - 1 LOVD
0000380567 00379367 DNA SEQ blood - 1 LOVD
0000380568 00379368 DNA SEQ blood - 1 LOVD
0000380569 00379369 DNA SEQ blood - 1 LOVD
0000380570 00379370 DNA SEQ blood - 1 LOVD
0000380571 00379371 DNA SEQ blood - 1 LOVD
0000380572 00379372 DNA SEQ blood - 1 LOVD
0000381014 00379812 DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD 2 LOVD
0000382231 00381017 DNA arraySEQ;SEQ;PCR blood - 1 LOVD
0000382454 00381239 DNA SEQ-NG blood - 1 Martin Zenker, Prof. Dr. med.
0000383708 00382494 DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data 1 LOVD
0000384341 00383117 DNA SEQ blood - 1 LOVD
0000384418 00383194 DNA;RNA SEQ;RT-PCR - - 3 LOVD
0000384419 00383195 DNA;RNA SEQ;RT-PCR - - 2 LOVD
0000384420 00383196 DNA;RNA SEQ;RT-PCR - - 2 LOVD
0000384421 00383197 DNA;RNA SEQ;RT-PCR - - 3 LOVD
0000384422 00383198 DNA;RNA SEQ;RT-PCR - - 1 LOVD
0000384449 00383225 DNA DHPLC;SEQ blood - 3 LOVD
0000384465 00383241 DNA DHPLC;SEQ blood - 2 LOVD
0000384599 00383375 DNA ? - - 2 LOVD
0000384879 00383654 DNA SEQ-NG;SEQ blood;saliva panel containing 18 BBS genes 1 LOVD
0000385907 00384681 DNA SEQ blood - 2 LOVD
0000385908 00384682 DNA SEQ blood - 1 LOVD
0000385909 00384683 DNA SEQ blood - 2 LOVD
0000386035 00384809 DNA;RNA arraySNP;SEQ;RT-PCR blood - 1 LOVD
0000386036 00384810 DNA;RNA arraySNP;SEQ;RT-PCR blood - 1 LOVD
0000386037 00384811 DNA;RNA arraySNP;SEQ;RT-PCR blood - 1 LOVD
0000386414 00385185 DNA SEQ blood - 2 LOVD
0000386448 00385219 DNA SEQ blood - 1 LOVD
0000386449 00385220 DNA SEQ blood - 1 LOVD
0000386450 00385221 DNA SEQ blood - 1 LOVD
0000386560 00385331 DNA PCR - - 3 LOVD
0000386579 00385350 DNA PCR - - 3 LOVD
0000386580 00385351 ? ? blood - 2 LOVD
0000386581 00385352 ? ? blood - 2 LOVD
0000386794 00385565 DNA SEQ;HD - SEQ or HD 1 LOVD
0000386830 00385601 DNA SEQ - - 1 LOVD
0000386867 00385638 DNA arrayCGH;SEQ;TaqMan - - 2 LOVD
0000386868 00385639 DNA arrayCGH;SEQ;TaqMan - - 2 LOVD
0000387173 00385945 DNA SEQ blood - 2 LOVD
0000388776 00387550 DNA arraySNP;SEQ-NG;PCR blood - 1 LOVD
0000388777 00387551 DNA arraySNP;SEQ-NG;PCR blood - 1 LOVD
0000388778 00387552 DNA arraySNP;SEQ-NG;PCR blood - 1 LOVD
0000388779 00387553 DNA arraySNP;SEQ-NG;PCR blood - 1 LOVD
0000388823 00387597 DNA;RNA SEQ;PCR blood - 1 LOVD
0000389539 00388298 DNA SEQ-NG-I;SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes 2 LOVD
0000389540 00388299 DNA SEQ-NG-I;SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes 1 LOVD
0000389545 00388304 DNA arraySNP;SEQ blood - 1 LOVD
0000389546 00388305 DNA arraySNP;SEQ blood - 1 LOVD
0000389547 00388306 DNA arraySNP;SEQ blood - 1 LOVD
0000389548 00388307 DNA arraySNP;SEQ blood - 1 LOVD
0000389549 00388308 DNA arraySNP;SEQ blood - 1 LOVD
0000389550 00388309 DNA arraySNP;SEQ blood - 1 LOVD
0000389551 00388310 DNA arraySNP;SEQ blood - 1 LOVD
0000389772 00388530 DNA SEQ-NG-I;SEQ blood whole exome sequencing 1 LOVD
0000390059 00388816 DNA SEQ-NG blood RET3 targeted sequencing panel - see paper 2 LOVD
0000390105 00388862 DNA SEQ-NG blood RET8 targeted sequencing panel - see paper 1 LOVD
0000392457 00391215 DNA SEQ-NG-I blood whole exome sequencing 1 LOVD
0000392619 00391377 DNA SEQ-NG - retrospective case note review, targeted gene panel testing 1 LOVD
0000394021 00392774 DNA SEQ-NG-I blood 131 known inherited retinal disease genes 1 LOVD
0000394022 00392775 DNA SEQ-NG-I blood 131 known inherited retinal disease genes 2 LOVD
No sorting possible Legend   How to query