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1Academic Journal
المؤلفون: de Boer, Elke, Ockeloen, Charlotte W, Kampen, Rosalie A, Hampstead, Juliet E, Dingemans, Alexander J M, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A C, Helm, Benjamin M, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A, Mathijssen, Irene M J, McGowan, Ruth, Monaghan, Kristin G, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W E, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J, Stegmann, Alexander P A, Swagemakers, Sigrid M A, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M, Wéber, Mathys, Gilissen, Christian, Low, Karen J, Fisher, Simon E, Vissers, Lisenka E L M, Wong, Maggie M K, Kleefstra, Tjitske
المصدر: de Boer , E , Ockeloen , C W , Kampen , R A , Hampstead , J E , Dingemans , A J M , Rots , D , Lütje , L , Ashraf , T , Baker , R , Barat-Houari , M , Angle , B , Chatron , N , Denommé-Pichon , A-S , Devinsky , O , Dubourg , C , Elmslie , F , Elloumi , H Z , Faivre , L , Fitzgerald-Butt , S , Geneviève , D , Goos , J A C , Helm , B M , Kini ....
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2Academic Journal
المؤلفون: de Boer, Elke, Ockeloen, Charlotte W, Kampen, Rosalie A, Hampstead, Juliet E, Dingemans, Alexander J M, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A C, Helm, Benjamin M, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A, Mathijssen, Irene M J, McGowan, Ruth, Monaghan, Kristin G, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W E, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J, Stegmann, Alexander P A, Swagemakers, Sigrid M A, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M, Wéber, Mathys, Gilissen, Christian, Low, Karen J, Fisher, Simon E, Vissers, Lisenka E L M, Wong, Maggie M K, Kleefstra, Tjitske
المصدر: de Boer , E , Ockeloen , C W , Kampen , R A , Hampstead , J E , Dingemans , A J M , Rots , D , Lütje , L , Ashraf , T , Baker , R , Barat-Houari , M , Angle , B , Chatron , N , Denommé-Pichon , A-S , Devinsky , O , Dubourg , C , Elmslie , F , Elloumi , H Z , Faivre , L , Fitzgerald-Butt , S , Geneviève , D , Goos , J A C , Helm , B M , Kini ....
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3Academic Journal
المؤلفون: Choi, Tsun M, Kramer, Gem J C, Goos, Jacqueline A C, Mathijssen, Irene M J, Wolvius, Eppo B, Ongkosuwito, Edwin M
المصدر: European Journal of Orthodontics ; volume 44, issue 3, page 287-293 ; ISSN 0141-5387 1460-2210
مصطلحات موضوعية: Orthodontics
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4Academic Journal
المؤلفون: Goos, Jacqueline A C, Vogel, Walter K, Mlcochova, Hana, Millard, Christopher J, Esfandiari, Elahe, Selman, Wisam H, Calpena, Eduardo, Koelling, Nils, Carpenter, Evan L, Swagemakers, Sigrid M A, van der Spek, Peter J, Filtz, Theresa M, Schwabe, John W R, Iwaniec, Urszula T, Mathijssen, Irene M J, Leid, Mark, Twigg, Stephen R F
المساهمون: National Institutes of Health, Higher Committee for Education Development in Iraq, Senior Investigator Award, Wellcome Trust, Medical Research Council, Weatherall Institute of Molecular Medicine Strategic Alliance, National Institute for Health Research, Oxford Biomedical Research Centre Programme
المصدر: Human Molecular Genetics ; volume 28, issue 15, page 2501-2513 ; ISSN 0964-6906 1460-2083
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5Academic Journal
المؤلفون: Reijnders, Margot R. F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A. C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B. A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A. L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Ludecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W. E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Stegmann, Alexander P. A., Brunner, Han G., Wilkie, Andrew O.M.
المصدر: Reijnders , M R F , Miller , K A , Alvi , M , Goos , J A C , Lees , M M , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , B B A , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , C A L , Wieczorek , D , Baralle , D , Blair , E M , Engels , H , Ludecke , H-J , Eason , ....
مصطلحات موضوعية: TOUSLED-LIKE KINASES, GENES, MUTATIONS, Cell Line, Translocation, Genetic, Genetic Association Studies, Humans, Protein Kinases/genetics, Child, Preschool, Infant, Male, Loss of Function Mutation/genetics, RNA, Messenger/genetics, Young Adult, Inheritance Patterns/genetics, Base Sequence, Adolescent, Facies, Adult, Female, Neurodevelopmental Disorders/genetics
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6Academic JournalIdentification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
المؤلفون: Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
المصدر: European Journal of Human Genetics ; volume 25, issue 10, page 1126-1133 ; ISSN 1018-4813 1476-5438
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7Academic Journal
المؤلفون: Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
المصدر: Journal of Medical Genetics ; volume 54, issue 4, page 260-268 ; ISSN 0022-2593 1468-6244
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8Academic Journal
المساهمون: Tell, Fabien
المصدر: PLoS ONE ; volume 7, issue 4, page e35293 ; ISSN 1932-6203
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9Academic Journal
المؤلفون: Choi, Tsun M, Kramer, Gem J C, Goos, Jacqueline A C, Mathijssen, Irene M J, Wolvius, Eppo B, Ongkosuwito, Edwin M
المصدر: European Journal of Orthodontics; Jun2022, Vol. 44 Issue 3, p287-293, 7p
مصطلحات موضوعية: DENTAL maturity, CRANIOSYNOSTOSES, DENTITION, CHILDREN'S hospitals, ACADEMIC medical centers
مصطلحات جغرافية: ROTTERDAM (Netherlands), NETHERLANDS
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10Academic Journal
المؤلفون: Suratannon, Narissara, van Wijck, Rogier T. A., Broer, Linda, Xue, Laixi, van Meurs, Joyce B. J., Barendregt, Barbara H., van der Burg, Mirjam, Dik, Willem A., Chatchatee, Pantipa, Langerak, Anton W., Swagemakers, Sigrid M. A., Goos, Jacqueline A. C., Mathijssen, Irene M. J., Dalm, Virgil A. S. H., Suphapeetiporn, Kanya, Heezen, Kim C., Drabwell, Jose, Uitterlinden, André G., van der Spek, Peter J., van Hagen, P. Martin
المصدر: Frontiers in Immunology; 4/15/2020, p1-8, 8p
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11Periodical
المؤلفون: Barrell, William B., Adel Al-Lami, Hadeel, Goos, Jacqueline A. C., Swagemakers, Sigrid M. A., van Dooren, Marieke, Torban, Elena, van der Spek, Peter J., Mathijssen, Irene M. J., Liu, Karen J.
المصدر: European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-9, 9p
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12Academic Journal
المؤلفون: Goos, Jacqueline A C, Vogel, Walter K, Mlcochova, Hana, Millard, Christopher J, Esfandiari, Elahe, Selman, Wisam H, Calpena, Eduardo, Koelling, Nils, Carpenter, Evan L, Swagemakers, Sigrid M A, Spek, Peter J van der, Filtz, Theresa M, Schwabe, John W R, Iwaniec, Urszula T, Mathijssen, Irene M J, Leid, Mark, Twigg, Stephen R F
المصدر: Human Molecular Genetics; 8/1/2019, Vol. 28 Issue 15, p2501-2513, 13p
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13Academic Journal
المؤلفون: Goos, Jacqueline A. C., van den Ouweland, Ans M. W., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Hoogeboom, A. Jeannette M., van Veelen, Marie‐Lise C., Mathijssen, Irene M. J., van der Spek, Peter J.
المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 1, page 123-127 ; ISSN 1552-4825 1552-4833
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14Academic Journal
المؤلفون: Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
المصدر: Nature Genetics ; volume 45, issue 3, page 304-307 ; ISSN 1061-4036 1546-1718
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15Academic Journal
المؤلفون: Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
المصدر: Nature Genetics ; volume 45, issue 10, page 1261-1261 ; ISSN 1061-4036 1546-1718
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16Academic Journal
المؤلفون: Miller, Kerry A., Twigg, Stephen R. F., McGowan, Simon J., Phipps, Julie M., Fenwick, Aimée L., Johnson, David, Wall, Steven A., Noons, Peter, Rees, Katie E. M., Tidey, Elizabeth A., Craft, Judith, Taylor, John, Taylor, Jenny C., Goos, Jacqueline A. C., Swagemakers, Sigrid M. A., Mathijssen, Irene M. J., van der Spek, Peter J., Lord, Helen, Lester, Tracy, Abid, Noina
المصدر: Journal of Medical Genetics; Apr2017, Vol. 54 Issue 4, p260-268, 9p
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17Academic Journal
المؤلفون: Goos, Jacqueline A. C., van den Ouweland, Ans M. W., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Hoogeboom, A. Jeannette M., van Veelen, Marie‐Lise C., Mathijssen, Irene M. J., van der Spek, Peter J.
المصدر: American Journal of Medical Genetics. Part A; Jan2015, Vol. 167A Issue 1, p123-127, 5p
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18Academic Journal
المؤلفون: Fenwick, Aimee L.1 aimee.fenwick@imm.ox.ac.uk, Goos, Jacqueline A. C.2 j.goos@erasmusmc.nl, Rankin, Julia3 julia.rankin@nhs.net, Lord, Helen4 helen.lord@ouh.nhs.uk, Lester, Tracy4 tracy.lester@ouh.nhs.uk, Hoogeboom, A. Jeannette M.5 a.hoogeboom@erasmusmc.nl, van den Ouweland, Ans M. W.5 a.vandenouweland@erasmusmc.nl, Wall, Steven A.6 steven.wall@nds.ox.ac.uk, Mathijssen, Irene M. J.2 i.mathijssen@erasmusmc.nl, Wilkie, Andrew O. M.1,6 andrew.wilkie@imm.ox.ac.uk
المصدر: BMC Medical Genetics. 2014, Vol. 15 Issue 1, p1-14. 14p.
مصطلحات موضوعية: *FIBROBLAST growth factor receptors, *CRANIOFACIAL dysostosis, *RNA splicing, *GENETIC mutation, *NUCLEOTIDES
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