All screenings for gene NPHP4

48 entries on 1 page. Showing entries 1 - 48.
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Screening ID

Individual ID

Template

Technique

Tissue

Remarks

Variants found

Owner
0000000014 00000014 DNA SEQ-NG - - 22 Global Variome, with Curator vacancy
0000000024 00000024 DNA SEQ-NG - - 15 Global Variome, with Curator vacancy
0000000039 00000039 DNA SEQ-NG - - 14 Global Variome, with Curator vacancy
0000000041 00000041 DNA SEQ-NG - - 13 Global Variome, with Curator vacancy
0000000042 00000042 DNA SEQ-NG - - 13 Global Variome, with Curator vacancy
0000000049 00000049 DNA SEQ-NG - - 16 Global Variome, with Curator vacancy
0000000075 00000075 DNA SEQ-NG - - 13 Global Variome, with Curator vacancy
0000033238 00033170 DNA SEQ;SEQ-NG-S - - 6 Kornelia Neveling
0000156371 00155506 DNA SEQ - - 1 Dror Sharon
0000303825 00302699 DNA SEQ-NG-I - gene panel 1 Intisar Al Alawi
0000303838 00302712 DNA SEQ-NG-I - gene panel 1 Intisar Al Alawi
0000310390 00309245 DNA SEQ - - 1 Global Variome, with Curator vacancy
0000329722 00328507 DNA SEQ-NG - gene panel 2 LOVD
0000337209 00335979 DNA SEQ-NG - gene panel 1 LOVD
0000360049 00358819 DNA arrayCGH;PCRlr;SEQ-NG - - 2 LOVD
0000375081 00373849 DNA SEQ-NG - 86-gene panel 2 LOVD
0000378952 00377748 DNA PCR; SEQ; SEQ-NG-S Blood - 3 LOVD
0000378953 00377749 DNA PCR; SEQ; SEQ-NG-S Blood - 2 LOVD
0000378983 00377779 DNA PCR; SEQ; SEQ-NG-S Blood - 1 LOVD
0000378984 00377780 DNA PCR; SEQ; SEQ-NG-S Blood - 1 LOVD
0000379119 00377915 DNA PCR; SEQ blood - 1 LOVD
0000382944 00381728 DNA PCR;SEQ-NG blood or a saliva sample - 2 LOVD
0000386484 00385255 DNA arrayCNV;SEQ blood - 1 LOVD
0000392052 00390811 DNA PCR;SEQ-NG;SEQ blood WES 1 LOVD
0000392628 00391386 DNA SEQ-NG - retrospective case note review, targeted gene panel testing 1 LOVD
0000392971 00391730 DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien 2 LOVD
0000392993 00391752 DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien 3 LOVD
0000396849 00395611 DNA ? - clinical exome sequencing 1 LOVD
0000408626 00407378 DNA HD;SEQ blood genes: NPHP1-NPHP23 1 LOVD
0000408627 00407379 DNA HD;SEQ blood genes: NPHP1-NPHP24 1 LOVD
0000408628 00407380 DNA HD;SEQ blood genes: NPHP1-NPHP25 1 LOVD
0000408629 00407381 DNA HD;SEQ blood genes: NPHP1-NPHP26 1 LOVD
0000408630 00407382 DNA HD;SEQ blood genes: NPHP1-NPHP27 1 LOVD
0000408925 00407673 DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD 1 LOVD
0000414678 00413401 DNA SEQ-NG - - 1 Sulman Basit
0000415039 00413759 DNA SEQ-NG - - 2 LOVD
0000420112 00418815 DNA ? blood - 1 LOVD
0000420113 00418816 DNA ? blood - 1 LOVD
0000420114 00418817 DNA ? blood - 1 LOVD
0000420115 00418818 DNA ? blood - 1 LOVD
0000420116 00418819 DNA ? blood - 1 LOVD
0000420117 00418820 DNA ? blood - 1 LOVD
0000420125 00418828 DNA PCR blood - 3 LOVD
0000420126 00418829 DNA PCR blood - 2 LOVD
0000420131 00418834 DNA PCR blood - 1 LOVD
0000420135 00418838 DNA PCR blood - 1 LOVD
0000420136 00418839 DNA PCR blood - 1 LOVD
0000420137 00418840 DNA PCR blood - 1 LOVD
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