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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. [electronic resource] by
- Bruno, D L
- White, S M
- Ganesamoorthy, D
- Burgess, T
- Butler, K
- Corrie, S
- Francis, D
- Hills, L
- Prabhakara, K
- Ngo, C
- Norris, F
- Oertel, R
- Pertile, M D
- Stark, Z
- Amor, D J
- Slater, H R
Producer: 20120308
In:
Journal of medical genetics vol. 48
Availability: No items available.
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18.
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Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants? [electronic resource] by
- Ganesamoorthy, D
- Bruno, D L
- McGillivray, G
- Norris, F
- White, S M
- Adroub, S
- Amor, D J
- Yeung, A
- Oertel, R
- Pertile, M D
- Ngo, C
- Arvaj, A R
- Walker, S
- Charan, P
- Palma-Dias, R
- Woodrow, N
- Slater, H R
Producer: 20130510
In:
BJOG : an international journal of obstetrics and gynaecology vol. 120
Availability: No items available.
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19.
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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. [electronic resource] by
- Bruno, D L
- Ganesamoorthy, D
- Schoumans, J
- Bankier, A
- Coman, D
- Delatycki, M
- Gardner, R J M
- Hunter, M
- James, P A
- Kannu, P
- McGillivray, G
- Pachter, N
- Peters, H
- Rieubland, C
- Savarirayan, R
- Scheffer, I E
- Sheffield, L
- Tan, T
- White, S M
- Yeung, A
- Bowman, Z
- Ngo, C
- Choy, K W
- Cacheux, V
- Wong, L
- Amor, D J
- Slater, H R
Producer: 20090317
In:
Journal of medical genetics vol. 46
Availability: No items available.
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20.
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Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. [electronic resource] by
- Ravenscroft, G
- Pannell, S
- O'Grady, G
- Ong, R
- Ee, H C
- Faiz, F
- Marns, L
- Goel, H
- Kumarasinghe, P
- Sollis, E
- Sivadorai, P
- Wilson, M
- Magoffin, A
- Nightingale, S
- Freckmann, M-L
- Kirk, E P
- Sachdev, R
- Lemberg, D A
- Delatycki, M B
- Kamm, M A
- Basnayake, C
- Lamont, P J
- Amor, D J
- Jones, K
- Schilperoort, J
- Davis, M R
- Laing, N G
Producer: 20191106
In:
Neurogastroenterology and motility vol. 30
Availability: No items available.
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