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Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement. [electronic resource] by
- Rodríguez-Perales, Sandra
- Meléndez, Bárbara
- Gribble, Susan M
- Valle, Laura
- Carter, Nigel P
- Santamaría, Iñigo
- Conde, Lucia
- Urioste, Miguel
- Benítez, Javier
- Cigudosa, Juan C
Producer: 20041216
In:
Human molecular genetics vol. 13
Availability: No items available.
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8.
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Finishing the finished human chromosome 22 sequence. [electronic resource] by
- Cole, Charlotte G
- McCann, Owen T
- Collins, John E
- Oliver, Karen
- Willey, David
- Gribble, Susan M
- Yang, Fengtang
- McLaren, Karen
- Rogers, Jane
- Ning, Zemin
- Beare, David M
- Dunham, Ian
Producer: 20080721
In:
Genome biology vol. 9
Availability: No items available.
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Micro-array analyses decipher exceptional complex familial chromosomal rearrangement. [electronic resource] by
- Fauth, Christine
- Gribble, Susan M
- Porter, Keith M
- Codina-Pascual, Montserrat
- Ng, Bee Ling
- Kraus, Jürgen
- Uhrig, Sabine
- Leifheit, Jürgen
- Haaf, Thomas
- Fiegler, Heike
- Carter, Nigel P
- Speicher, Michael R
Producer: 20070402
In:
Human genetics vol. 119
Availability: No items available.
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A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. [electronic resource] by
- Freitas, Érika L
- Gribble, Susan M
- Simioni, Milena
- Vieira, Társis P
- Prigmore, Elena
- Krepischi, Ana C
- Rosenberg, Carla
- Pearson, Peter L
- Melo, Débora G
- Gil-da-Silva-Lopes, Vera Lúcia
Producer: 20130218
In:
European journal of medical genetics vol. 55
Availability: No items available.
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UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene. [electronic resource] by
- Wake, Naomi C
- Ricketts, Christopher J
- Morris, Mark R
- Prigmore, Elena
- Gribble, Susan M
- Skytte, Anne-Bine
- Brown, Michael
- Clarke, Noel
- Banks, Rosamonde E
- Hodgson, Shirley
- Turnell, Andrew S
- Maher, Eamonn R
- Woodward, Emma R
Producer: 20140616
In:
Human mutation vol. 34
Availability: No items available.
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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. [electronic resource] by
- Woodward, Karen J
- Cundall, Maria
- Sperle, Karen
- Sistermans, Erik A
- Ross, Mark
- Howell, Gareth
- Gribble, Susan M
- Burford, Deborah C
- Carter, Nigel P
- Hobson, Donald L
- Garbern, James Y
- Kamholz, John
- Heng, Henry
- Hodes, M E
- Malcolm, Sue
- Hobson, Grace M
Producer: 20060130
In:
American journal of human genetics vol. 77
Availability: No items available.
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13.
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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization. [electronic resource] by
- Freitas, Érika L
- Gribble, Susan M
- Simioni, Milena
- Vieira, Társis P
- Silva-Grecco, Roseane L
- Balarin, Marly A S
- Prigmore, Elena
- Krepischi-Santos, Ana C
- Rosenberg, Carla
- Szuhai, Karoly
- van Haeringen, Arie
- Carter, Nigel P
- Gil-da-Silva-Lopes, Vera Lúcia
Producer: 20120209
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome. [electronic resource] by
- Gribble, Susan M
- Wiseman, Frances K
- Clayton, Stephen
- Prigmore, Elena
- Langley, Elizabeth
- Yang, Fengtang
- Maguire, Sean
- Fu, Beiyuan
- Rajan, Diana
- Sheppard, Olivia
- Scott, Carol
- Hauser, Heidi
- Stephens, Philip J
- Stebbings, Lucy A
- Ng, Bee Ling
- Fitzgerald, Tomas
- Quail, Michael A
- Banerjee, Ruby
- Rothkamm, Kai
- Tybulewicz, Victor L J
- Fisher, Elizabeth M C
- Carter, Nigel P
Producer: 20131022
In:
PloS one vol. 8
Availability: No items available.
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