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Antimicrobial agents and chemotherapy, 2018-03, Vol.62 (3)
2018
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American journal of human genetics, 2023-02, Vol.110 (2), p.215-227
- Hiatt, Susan M.
- Trajkova, Slavica
- Sebastiano, Matteo Rossi
- Partridge, E. Christopher
- Abidi, Fatima E.
- Anderson, Ashlyn
- Ansar, Muhammad
- Antonarakis, Stylianos E.
- Azadi, Azadeh
- Bachmann-Gagescu, Ruxandra
- Bartuli, Andrea
- Benech, Caroline
- Berkowitz, Jennifer L.
- Betti, Michael J.
- Brusco, Alfredo
- Cannon, Ashley
- Caron, Giulia
- Chen, Yanmin
- Cochran, Meagan E.
- Coleman, Tanner F.
- Crenshaw, Molly M.
- Cuisset, Laurence
- Curry, Cynthia J.
- Darvish, Hossein
- Demirdas, Serwet
- Descartes, Maria
- Douglas, Jessica
- Dyment, David A.
- Elloumi, Houda Zghal
- Ermondi, Giuseppe
- Faoucher, Marie
- Farrow, Emily G.
- Felker, Stephanie A.
- Fisher, Heather
- Hurst, Anna C.E.
- Joset, Pascal
- Kelly, Melissa A.
- Kmoch, Stanislav
- Leadem, Benjamin R.
- Lyons, Michael J.
- Macchiaiolo, Marina
- Magner, Martin
- Mandrile, Giorgia
- Mattioli, Francesca
- McEown, Megan
- Meadows, Sarah K.
- Medne, Livija
- Meeks, Naomi J.L.
- Montgomery, Sarah
- Napier, Melanie P.
- Natowicz, Marvin
- Newberry, Kimberly M.
- Niceta, Marcello
- Noskova, Lenka
- Nowak, Catherine B.
- Noyes, Amanda G.
- Osmond, Matthew
- Prijoles, Eloise J.
- Pugh, Jada
- Pullano, Verdiana
- Quélin, Chloé
- Rahimi-Aliabadi, Simin
- Rauch, Anita
- Redon, Sylvia
- Reymond, Alexandre
- Schwager, Caitlin R.
- Sellars, Elizabeth A.
- Scheuerle, Angela E.
- Shukarova-Angelovska, Elena
- Skraban, Cara
- Stolerman, Elliot
- Sullivan, Bonnie R.
- Tartaglia, Marco
- Thiffault, Isabelle
- Uguen, Kevin
- Umaña, Luis A.
- van Bever, Yolande
- van der Crabben, Saskia N.
- van Slegtenhorst, Marjon A.
- Waisfisz, Quinten
- Washington, Camerun
- Rodan, Lance H.
- Myers, Richard M.
- Cooper, Gregory M.
2023
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Nature genetics, 2009-05, Vol.41 (5), p.535-543
- Teague, Jon
- Van Esch, Hilde
- Carvill, Gemma
- Richardson, David
- Varian, Jennifer
- Wooster, Richard
- Stratton, Michael R
- O'Meara, Sarah
- Hardy, Claire
- Shepherd, Rebecca
- Bobrow, Martin
- Gardner, Alison
- Abidi, Fatima E
- Srivastava, Anand K
- Fullston, Tod
- Cole, Jennifer
- Jenkinson, Andrew
- Buck, Gemma
- Tarpey, Patrick S
- Futreal, P Andrew
- Latimer, Calli
- Turrell, Kelly
- Jia, Mingming
- Corbett, Mark
- Boyle, Jackie
- Luo, Ying
- Partington, Michael
- Gecz, Jozef
- van Bokhoven, Hans
- Andrews, Jenny
- Blow, Matt
- de Brouwer, Arjan P M
- Cox, James
- Whibley, Annabel
- Rujirabanjerd, Sinitdhorn
- Moon, Jenny
- Mallya, Uma
- Gray, Kristian
- Dunmore, Rebecca
- Smith, Raffaella
- Shoubridge, Cheryl
- Turner, Rachel
- Menzies, Andrew
- Maddison, Mark
- Hackett, Anna
- Barthorpe, Syd
- Martinez, Francisco
- Turner, Gillian
- Parnau, Josef
- Jones, David
- Vandeleur, Lucianne
- Chelly, Jamel
- Haan, Eric
- Greenman, Chris
- Thompson, Deborah
- Mohammed, Shehla
- Skinner, Cindy
- Mironenko, Tatiana
- Ropers, Hans-Hilger
- Xue, Yali
- Field, Michael
- Shaw, Marie
- Tyler-Smith, Chris
- Tolmie, John L
- Edkins, Sarah
- Pleasance, Erin
- Stevenson, Roger E
- Schwartz, Charles E
- Widaa, Sara
- Stephens, Phil
- Goliath, Rene
- Raynaud, Martine
- Easton, Douglas F
- Dicks, Ed
- Butler, Adam
- Raymond, F Lucy
- Wray, Paul
- Tejada, M Isabel
- West, Sofie
2009
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BMC medical genomics, 2013-01, Vol.6 (1), p.1-1, Article 1
- Grafodatskaya, Daria
- Chung, Barian H Y
- Butcher, Darci T
- Turinsky, Andrei L
- Goodman, Sarah J
- Choufani, Sana
- Chen, Yi-An
- Lou, Youliang
- Zhao, Chunhua
- Rajendram, Rageen
- Abidi, Fatima E
- Skinner, Cindy
- Stavropoulos, James
- Bondy, Carolyn A
- Hamilton, Jill
- Wodak, Shoshana
- Scherer, Stephen W
- Schwartz, Charles E
- Weksberg, Rosanna
2013
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Nature genetics, 2010-06, Vol.42 (6), p.486-488
- Proos, Anne
- Gécz, Jozef
- Hackett, Anna
- Ramsden, Sarah L
- Shoubridge, Cheryl
- Gardner, Alison
- Stratton, Michael R
- Harvey, Robert J
- Raymond, F Lucy
- Field, Michael
- Murphy, Jessica A
- Puusepp, Helen
- Schwartz, Charles E
- Shaw, Marie
- Turner, Gill
- Abidi, Fatima
- Walikonis, Randall S
- Futreal, P Andrew
- Tarpey, Patrick S
- Stevenson, Roger E
- Rujirabanjerd, Sinitdhorn
- Boyle, Jackie
2010
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Genetics in Medicine Open, 2024, Vol.2, p.101507
2024
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Genetics in Medicine Open, 2024, Vol.2, p.101569
2024
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Clinical dysmorphology, 2022-04, Vol.31 (2), p.91
2022
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PLoS genetics, 2017-07, Vol.13 (7), p.e1006937-e1006937
2017
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Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
- Whibley, Annabel C.
- Plagnol, Vincent
- Tarpey, Patrick S.
- Abidi, Fatima
- Fullston, Tod
- Choma, Maja K.
- Boucher, Catherine A.
- Shepherd, Lorraine
- Willatt, Lionel
- Parkin, Georgina
- Smith, Raffaella
- Futreal, P. Andrew
- Shaw, Marie
- Boyle, Jackie
- Licata, Andrea
- Skinner, Cindy
- Stevenson, Roger E.
- Turner, Gillian
- Field, Michael
- Hackett, Anna
- Schwartz, Charles E.
- Gecz, Jozef
- Stratton, Michael R.
- Raymond, F. Lucy
2010
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European journal of human genetics : EJHG, 2010-05, Vol.18 (5), p.544-552
- HACKETT, Anna
- TARPEY, Patrick S
- TOLMIE, John
- YATES, John Rw
- TURNER, Gillian
- WILSON, Meredith
- FUTREAL, Andrew P
- CORBETT, Mark
- SHAW, Marie
- GECZ, Jozef
- RAYMOND, F. Lucy
- STRATTON, Michael R
- LICATA, Andrea
- SCHWARTZ, Charles E
- ABIDI, Fatima E
- COX, James
- WHIBLEY, Annabel
- BOYLE, Jackie
- ROGERS, Carolyn
- GRIGG, John
- PARTINGTON, Michael
- STEVENSON, Roger E
2010
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100596, Article 100596
2023
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PLoS genetics, 2023-12, Vol.19 (12), p.e1011103-e1011103
2023
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Human molecular genetics, 2005-04, Vol.14 (8), p.1019-1027
2005
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Pakistan Armed Forces medical journal, 2021-04, Vol.71 (2), p.716-18
2021
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Scientific reports, 2018-03, Vol.8 (1), p.4950-13, Article 4950
2018
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Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1917-n/a
2022
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Journal of University Medical & Dental College, 2022-08, Vol.13 (3)
2022
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Applied microbiology and biotechnology, 2011-02, Vol.89 (3), p.807-815
2011
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The Journal of biological chemistry, 2001-11, Vol.276 (48), p.45270-45275
2001
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Genetics in medicine, 2022-03, Vol.24 (3), p.S252-S253
2022
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Genetics in medicine, 2022-03, Vol.24 (3), p.S216-S218
2022
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European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.176-183
2005
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Biochemical journal, 1997-12, Vol.328 ( Pt 3) (3), p.739-743
1997
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Genetics in medicine, 2022-03, Vol.24 (3), p.S196-S196
2022
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