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Fission yeast Ccq1 is a modulator of telomerase activity. [electronic resource] by
- Armstrong, Christine A
- Moiseeva, Vera
- Collopy, Laura C
- Pearson, Siân R
- Ullah, Tomalika R
- Xi, Shidong T
- Martin, Jennifer
- Subramaniam, Shaan
- Marelli, Sara
- Amelina, Hanna
- Tomita, Kazunori
Producer: 20190722
In:
Nucleic acids research vol. 46
Availability: No items available.
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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. [electronic resource] by
- Tummala, Hemanth
- Walne, Amanda
- Collopy, Laura
- Cardoso, Shirleny
- de la Fuente, Josu
- Lawson, Sarah
- Powell, James
- Cooper, Nicola
- Foster, Alison
- Mohammed, Shehla
- Plagnol, Vincent
- Vulliamy, Thomas
- Dokal, Inderjeet
Producer: 20150817
In:
The Journal of clinical investigation vol. 125
Availability: No items available.
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LARP7 family proteins have conserved function in telomerase assembly. [electronic resource] by
- Collopy, Laura C
- Ware, Tracy L
- Goncalves, Tomas
- Í Kongsstovu, Sunnvør
- Yang, Qian
- Amelina, Hanna
- Pinder, Corinne
- Alenazi, Ala
- Moiseeva, Vera
- Pearson, Siân R
- Armstrong, Christine A
- Tomita, Kazunori
Producer: 20180307
In:
Nature communications vol. 9
Availability: No items available.
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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype. [electronic resource] by
- Dard, Rodolphe
- Herve, Bérénice
- Leblanc, Thierry
- de Villartay, Jean-Pierre
- Collopy, Laura
- Vulliami, Tom
- Drunat, Severine
- Gorde, Stephanie
- Babik, Abel
- Souchon, Pierre-François
- Agadr, Aomar
- Abilkassem, Rachid
- Elalloussi, Mustapha
- Verloes, Alain
- Doco-Fenzy, Martine
Producer: 20180529
In:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology vol. 28
Availability: No items available.
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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes. [electronic resource] by
- Tummala, Hemanth
- Collopy, Laura C
- Walne, Amanda J
- Ellison, Alicia
- Cardoso, Shirleny
- Aksu, Tekin
- Yarali, Nese
- Aslan, Deniz
- Fikret Akata, Rüştü
- Teo, Juliana
- Songyang, Zhou
- Pontikos, Nikolas
- Fitzgibbon, Jude
- Tomita, Kazunori
- Vulliamy, Tom
- Dokal, Inderjeet
Producer: 20190723
In:
Blood vol. 132
Availability: No items available.
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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. [electronic resource] by
- Tummala, Hemanth
- Walne, Amanda J
- Williams, Mike
- Bockett, Nicholas
- Collopy, Laura
- Cardoso, Shirleny
- Ellison, Alicia
- Wynn, Rob
- Leblanc, Thierry
- Fitzgibbon, Jude
- Kelsell, David P
- van Heel, David A
- Payne, Elspeth
- Plagnol, Vincent
- Dokal, Inderjeet
- Vulliamy, Tom
Producer: 20170519
In:
American journal of human genetics vol. 99
Availability: No items available.
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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. [electronic resource] by
- Walne, Amanda J
- Collopy, Laura
- Cardoso, Shirleny
- Ellison, Alicia
- Plagnol, Vincent
- Albayrak, Canan
- Albayrak, Davut
- Kilic, Sara Sebnem
- Patıroglu, Turkan
- Akar, Haluk
- Godfrey, Keith
- Carter, Tina
- Marafie, Makia
- Vora, Ajay
- Sundin, Mikael
- Vulliamy, Thomas
- Tummala, Hemanth
- Dokal, Inderjeet
Producer: 20170616
In:
Haematologica vol. 101
Availability: No items available.
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