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Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry. [electronic resource] by
- Saha, Bidisha
- Lessel, Davor
- Nampoothiri, Sheela
- Rao, Anuradha S
- Hisama, Fuki M
- Peter, Dincy
- Bennett, Chris
- Nürnberg, Gudrun
- Nürnberg, Peter
- Martin, George M
- Kubisch, Christian
- Oshima, Junko
Publication details: Molecular genetics & genomic medicine May 2013
In:
Molecular genetics & genomic medicine vol. 1
Availability: No items available.
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12.
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A chemical dynamics, kinetics, and theoretical study on the reaction of the cyano radical (CN; X(2)Sigma+) with phenylacetylene (C6H5CCH; X(1)A1). [electronic resource] by
- Bennett, Chris J
- Morales, Sébastien B
- Le Picard, Sébastien D
- Canosa, André
- Sims, Ian R
- Shih, Y H
- Chang, A H H
- Gu, Xibin
- Zhang, Fantong
- Kaiser, Ralf I
Producer: 20101201
In:
Physical chemistry chemical physics : PCCP vol. 12
Availability: No items available.
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13.
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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. [electronic resource] by
- Szymanska, Katarzyna
- Berry, Ian
- Logan, Clare V
- Cousins, Simon Rr
- Lindsay, Helen
- Jafri, Hussain
- Raashid, Yasmin
- Malik-Sharif, Saghira
- Castle, Bruce
- Ahmed, Mushtag
- Bennett, Chris
- Carlton, Ruth
- Johnson, Colin A
Producer: 20130226
In:
Cilia vol. 1
Availability: No items available.
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14.
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Clinical expression of Menkes disease in females with normal karyotype. [electronic resource] by
- Møller, Lisbeth Birk
- Lenartowicz, Malgorzata
- Zabot, Marie-Therese
- Josiane, Arnaud
- Burglen, Lydie
- Bennett, Chris
- Riconda, Daniel
- Fisher, Richard
- Janssens, Sandra
- Mohammed, Shehla
- Ausems, Margreet
- Tümer, Zeynep
- Horn, Nina
- Jensen, Thomas G
Producer: 20120605
In:
Orphanet journal of rare diseases vol. 7
Availability: No items available.
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15.
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Boot camp translation: a method for building a community of solution. [electronic resource] by
- Norman, Ned
- Bennett, Chris
- Cowart, Shirley
- Felzien, Maret
- Flores, Martha
- Flores, Rafael
- Haynes, Connie
- Hernandez, Mike
- Rodriquez, Mary Petra
- Sanchez, Norah
- Sanchez, Sergio
- Winkelman, Kathy
- Winkelman, Steve
- Zittleman, Linda
- Westfall, John M
Producer: 20131017
In:
Journal of the American Board of Family Medicine : JABFM vol. 26
Availability: No items available.
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16.
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Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas. [electronic resource] by
- Smith, Miriam J
- Wallace, Andrew J
- Bennett, Chris
- Hasselblatt, Martin
- Elert-Dobkowska, Ewelina
- Evans, Linton T
- Hickey, William F
- van Hoff, Jack
- Bauer, David
- Lee, Amy
- Hevner, Robert F
- Beetz, Christian
- du Plessis, Daniel
- Kilday, John-Paul
- Newman, William G
- Evans, D Gareth
Producer: 20150106
In:
The Journal of pathology vol. 234
Availability: No items available.
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17.
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Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. [electronic resource] by
- Scott, Claire A
- Plagnol, Vincent
- Nitoiu, Daniela
- Bland, Philip J
- Blaydon, Diana C
- Chronnell, Catherine M
- Poon, Daniel S
- Bourn, David
- Gárdos, László
- Császár, Andrea
- Tihanyi, Mariann
- Rustin, Malcolm
- Burrows, Nigel P
- Bennett, Chris
- Harper, John I
- Conrad, Bernard
- Verma, Ishwar C
- Taibjee, Saleem M
- Moss, Celia
- O'Toole, Edel A
- Kelsell, David P
Producer: 20130312
In:
The Journal of investigative dermatology vol. 133
Availability: No items available.
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