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Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
2016
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Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1013-n/a
2020
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Journal of clinical sleep medicine, 2017-11, Vol.13 (11), p.1359-1362
2017
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Journal of medical genetics, 2015-07, Vol.52 (7), p.454-464
2015
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Nature genetics, 2015-11, Vol.47 (11), p.1363-1369
- Akawi, Nadia
- McRae, Jeremy
- Ansari, Morad
- Balasubramanian, Meena
- Blyth, Moira
- Brady, Angela F
- Clayton, Stephen
- Cole, Trevor
- Deshpande, Charu
- Fitzgerald, Tomas W
- Foulds, Nicola
- Francis, Richard
- Gabriel, George
- Gerety, Sebastian S
- Goodship, Judith
- Hobson, Emma
- Jones, Wendy D
- Joss, Shelagh
- King, Daniel
- Klena, Nikolai
- Kumar, Ajith
- Lees, Melissa
- Lelliott, Chris
- Lord, Jenny
- McMullan, Dominic
- O'Regan, Mary
- Osio, Deborah
- Piombo, Virginia
- Prigmore, Elena
- Rajan, Diana
- Rosser, Elisabeth
- Sifrim, Alejandro
- Smith, Audrey
- Swaminathan, Ganesh J
- Turnpenny, Peter
- Whitworth, James
- Wright, Caroline F
- Firth, Helen V
- Barrett, Jeffrey C
- Lo, Cecilia W
- FitzPatrick, David R
- Hurles, Matthew E
2015
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Journal of medical genetics, 2016-03, Vol.53 (3), p.152-162
- Hempel, Annmarie
- Pagnamenta, Alistair T
- Blyth, Moira
- Mansour, Sahar
- McConnell, Vivienne
- Kou, Ikuyo
- Ikegawa, Shiro
- Tsurusaki, Yoshinori
- Matsumoto, Naomichi
- Lo-Castro, Adriana
- Plessis, Ghislaine
- Albrecht, Beate
- Battaglia, Agatino
- Taylor, Jenny C
- Howard, Malcolm F
- Keays, David
- Sohal, Aman Singh
- Kühl, Susanne J
- Kini, Usha
- McNeill, Alisdair
2016
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Journal of genetic counseling, 2020-04, Vol.29 (2), p.282-292
2020
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American journal of human genetics, 2023-11, Vol.110 (11), p.1919-1937
- Nil, Zelha
- Deshwar, Ashish R.
- Huang, Yan
- Barish, Scott
- Zhang, Xi
- Choufani, Sanaa
- Le Quesne Stabej, Polona
- Hayes, Ian
- Yap, Patrick
- Haldeman-Englert, Chad
- Wilson, Carolyn
- Prescott, Trine
- Tveten, Kristian
- Vøllo, Arve
- Haynes, Devon
- Wheeler, Patricia G.
- Zon, Jessica
- Cytrynbaum, Cheryl
- Jobling, Rebekah
- Blyth, Moira
- Banka, Siddharth
- Afenjar, Alexandra
- Mignot, Cyril
- Robin-Renaldo, Florence
- Keren, Boris
- Kanca, Oguz
- Mao, Xiao
- Wegner, Daniel J.
- Sisco, Kathleen
- Shinawi, Marwan
- Wangler, Michael F.
- Weksberg, Rosanna
- Yamamoto, Shinya
- Costain, Gregory
- Bellen, Hugo J.
2023
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The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16
- Gehin, Charlotte
- Lone, Museer A
- Lee, Winston
- Capolupo, Laura
- Ho, Sylvia
- Adeyemi, Adekemi M
- Gerkes, Erica H
- Stegmann, Alexander Pa
- López-Martín, Estrella
- Bermejo-Sánchez, Eva
- Martínez-Delgado, Beatriz
- Zweier, Christiane
- Kraus, Cornelia
- Popp, Bernt
- Strehlow, Vincent
- Gräfe, Daniel
- Knerr, Ina
- Jones, Eppie R
- Zamuner, Stefano
- Abriata, Luciano A
- Kunnathully, Vidya
- Moeller, Brandon E
- Vocat, Anthony
- Rommelaere, Samuel
- Bocquete, Jean-Philippe
- Ruchti, Evelyne
- Limoni, Greta
- Van Campenhoudt, Marine
- Bourgeat, Samuel
- Henklein, Petra
- Gilissen, Christian
- van Bon, Bregje W
- Pfundt, Rolph
- Willemsen, Marjolein H
- Schieving, Jolanda H
- Leonardi, Emanuela
- Soli, Fiorenza
- Murgia, Alessandra
- Guo, Hui
- Zhang, Qiumeng
- Xia, Kun
- Fagerberg, Christina R
- Beier, Christoph P
- Larsen, Martin J
- Valenzuela, Irene
- Fernández-Álvarez, Paula
- Xiong, Shiyi
- Śmigiel, Robert
- López-González, Vanesa
- Armengol, Lluís
- Morleo, Manuela
- Selicorni, Angelo
- Torella, Annalaura
- Blyth, Moira
- Cooper, Nicola S
- Wilson, Valerie
- Oegema, Renske
- Herenger, Yvan
- Garde, Aurore
- Bruel, Ange-Line
- Tran Mau-Them, Frederic
- Maddocks, Alexis Br
- Bain, Jennifer M
- Bhat, Musadiq A
- Costain, Gregory
- Kannu, Peter
- Marwaha, Ashish
- Champaigne, Neena L
- Friez, Michael J
- Richardson, Ellen B
- Gowda, Vykuntaraju K
- Srinivasan, Varunvenkat M
- Gupta, Yask
- Lim, Tze Y
- Sanna-Cherchi, Simone
- Lemaitre, Bruno
- Yamaji, Toshiyuki
- Hanada, Kentaro
- Burke, John E
- Jakšić, Ana Marjia
- McCabe, Brian D
- De Los Rios, Paolo
- Hornemann, Thorsten
- D'Angelo, Giovanni
- Gennarino, Vincenzo A
2023
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Journal of clinical immunology, 2019-04, Vol.39 (3), p.249-256
2019
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Human mutation, 2019-05, Vol.40 (5), p.619-630
- Lenk, Guy M.
- Berry, Ian R.
- Stutterd, Chloe A.
- Blyth, Moira
- Green, Lydia
- Vadlamani, Gayatri
- Warren, Daniel
- Craven, Ian
- Fanjul‐Fernandez, Miriam
- Rodriguez‐Casero, Victoria
- Lockhart, Paul J.
- Vanderver, Adeline
- Simons, Cas
- Gibb, Susan
- Sadedin, Simon
- White, Susan M.
- Christodoulou, John
- Skibina, Olga
- Ruddle, Jonathan
- Tan, Tiong Y.
- Leventer, Richard J.
- Livingston, John H.
- Meisler, Miriam H.
2019
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European journal of medical genetics, 2015-01, Vol.58 (1), p.44-46
2015
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European journal of medical genetics, 2019-01, Vol.62 (1), p.27-34
2019
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Clinical dysmorphology, 2011-04, Vol.20 (2), p.73
2011
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Human mutation, 2019-05, Vol.40 (5), p.619-630
- Lenk, Guy M.
- Berry, Ian R.
- Stutterd, Chloe A.
- Blyth, Moira
- Green, Lydia
- Vadlamani, Gayatri
- Warren, Daniel
- Craven, Ian
- Fanjul-Fernandez, Miriam
- Rodriguez-Casero, Victoria
- Lockhart, Paul J.
- Vanderver, Adeline
- Simons, Cas
- Gibb, Susan
- Sadedin, Simon
- White, Susan M.
- Christodoulou, John
- Skibina, Olga
- Ruddle, Jonathan
- Tan, Tiong Y.
- Leventer, Richard J.
- Livingston, John H.
- Meisler, Miriam H.
2019
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American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2764-2768
2014
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Wellcome open research, 2018, Vol.3, p.46-46
- Tatton-Brown, Katrina
- Zachariou, Anna
- Loveday, Chey
- Renwick, Anthony
- Mahamdallie, Shazia
- Aksglaede, Lise
- Baralle, Diana
- Barge-Schaapveld, Daniela
- Blyth, Moira
- Bouma, Mieke
- Breckpot, Jeroen
- Crabb, Beau
- Dabir, Tabib
- Cormier-Daire, Valerie
- Fauth, Christine
- Fisher, Richard
- Gener, Blanca
- Goudie, David
- Homfray, Tessa
- Hunter, Matthew
- Jorgensen, Agnete
- Kant, Sarina G
- Kirally-Borri, Cathy
- Koolen, David
- Kumar, Ajith
- Labilloy, Anatalia
- Lees, Melissa
- Marcelis, Carlo
- Mercer, Catherine
- Mignot, Cyril
- Miller, Kathryn
- Neas, Katherine
- Newbury-Ecob, Ruth
- Pilz, Daniela T
- Posmyk, Renata
- Prada, Carlos
- Ramsey, Keri
- Randolph, Linda M
- Selicorni, Angelo
- Shears, Deborah
- Suri, Mohnish
- Temple, I Karen
- Turnpenny, Peter
- Val Maldergem, Lionel
- Varghese, Vinod
- Veenstra-Knol, Hermine E
- Yachelevich, Naomi
- Yates, Laura
- Rahman, Nazneen
2018
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Clinical dysmorphology, 2010-04, Vol.19 (2), p.62
2010
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American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1115-1126
- Tooley, Madeleine
- Lynch, Danielle
- Bernier, Francois
- Parboosingh, Jillian
- Bhoj, Elizabeth
- Zackai, Elaine
- Calder, Alistair
- Itasaki, Nobue
- Wakeling, Emma
- Scott, Richard
- Lees, Melissa
- Clayton-Smith, Jill
- Blyth, Moira
- Morton, Jenny
- Shears, Debbie
- Kini, Usha
- Homfray, Tessa
- Clarke, Angus
- Barnicoat, Angela
- Wallis, Colin
- Hewitson, Rebecca
- Offiah, Amaka
- Saunders, Michael
- Langton-Hewer, Simon
- Hilliard, Tom
- Davis, Peter
- Smithson, Sarah
2016
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Clinical dysmorphology, 2017-04, Vol.26 (2), p.101
2017
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Clinical dysmorphology, 2014-04, Vol.23 (2), p.56
2014
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Clinical dysmorphology, 2016-10, Vol.25 (4), p.135
2016
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PloS one, 2022-01, Vol.17 (11)
- Hildegard Nikki Hall
- Hemant Bengani
- Robert B. Hufnagel
- Giuseppe Damante
- Morad Ansari
- Joseph A. Marsh
- Graeme R. Grimes
- Alex von Kriegsheim
- David Moore
- Lisa McKie
- Jamalia Rahmat
- Catia Mio
- Moira Blyth
- Wee Teik Keng
- Lily Islam
- Meriel McEntargart
- Marcel M. Mannens
- Veronica Van Heyningen
- Joe Rainger
- Brian P. Brooks
- David R. FitzPatrick
2022
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American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1320-1324
2008
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American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.i-i
- Tooley, Madeleine
- Lynch, Danielle
- Bernier, Francois
- Parboosingh, Jillian
- Bhoj, Elizabeth
- Zackai, Elaine
- Calder, Alistair
- Itasaki, Nobue
- Wakeling, Emma
- Scott, Richard
- Lees, Melissa
- Clayton-Smith, Jill
- Blyth, Moira
- Morton, Jenny
- Shears, Debbie
- Kini, Usha
- Homfray, Tessa
- Clarke, Angus
- Barnicoat, Angela
- Wallis, Colin
- Hewitson, Rebecca
- Offiah, Amaka
- Saunders, Michael
- Langton-Hewer, Simon
- Hilliard, Tom
- Davis, Peter
- Smithson, Sarah
2016
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Zeitschrift / Serie
- American Journal Of Medical Genetics. Part A
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- Burns : Journal Of The International Society For Burn Injuries
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