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Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. [electronic resource] by
- Cremers, F P
- van de Pol, D J
- Wieringa, B
- Collins, F S
- Sankila, E M
- Siu, V M
- Flintoff, W F
- Brunsmann, F
- Blonden, L A
- Ropers, H H
Producer: 19891109
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 86
Availability: No items available.
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17.
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. [electronic resource] by
- Sawyer, S L
- Hartley, T
- Dyment, D A
- Beaulieu, C L
- Schwartzentruber, J
- Smith, A
- Bedford, H M
- Bernard, G
- Bernier, F P
- Brais, B
- Bulman, D E
- Warman Chardon, J
- Chitayat, D
- Deladoëy, J
- Fernandez, B A
- Frosk, P
- Geraghty, M T
- Gerull, B
- Gibson, W
- Gow, R M
- Graham, G E
- Green, J S
- Heon, E
- Horvath, G
- Innes, A M
- Jabado, N
- Kim, R H
- Koenekoop, R K
- Khan, A
- Lehmann, O J
- Mendoza-Londono, R
- Michaud, J L
- Nikkel, S M
- Penney, L S
- Polychronakos, C
- Richer, J
- Rouleau, G A
- Samuels, M E
- Siu, V M
- Suchowersky, O
- Tarnopolsky, M A
- Yoon, G
- Zahir, F R
- Majewski, J
- Boycott, K M
Producer: 20161213
In:
Clinical genetics vol. 89
Availability: No items available.
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