Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Brain H. Y. Chung"'
Autor:
Catherine Vincent-Delorme, Claudia A. L. Ruivenkamp, Marjan De Rademaeker, Francisco Martínez, Tracy Dudding-Byth, Marianne McGuire, Bert B.A. de Vries, Mitsuhiro Kato, Levinus A. Bok, Hülya Kayserili, Jeff M. Milunsky, Suzanne C E H Sallevelt, Alwin F. J. Brouwer, Jill Clayton-Smith, Emilia K. Bijlsma, Miranda Splitt, Patricia G. Wheeler, Philippe M. Campeau, Fatma Mujgan Sonmez, Kylin Lammers, Stefanie Beck-Wödl, Caroline Rooryck, Louise C. Wilson, Evan E. Eichler, Sarina G. Kant, Johanna C. Herkert, Karin R. Heitink, Eyyup Uctepe, Pleuntje J. van der Sluijs, Miho Adachi-Fukuda, Lone W. Laulund, Sandra Jansen, Nicolette S. den Hollander, Damien Lederer, Tomoki Kosho, Constance T. R. M. Stumpel, Saskia M. Maas, Esra Kılıç, Erica H. Gerkes, Duco Steenbeek, Melissa Lees, Kay Metcalfe, Karin Dahan, Ineke van der Burgt, Isabelle Maystadt, Christian Netzer, Ute Grasshoff, Carmen Orellana, Mahmut Şamil Sağıroğlu, Gijs W. E. Santen, Pelin Ozlem Simsek-Kiper, Mónica Roselló, Gabriela Soares, Alexander P.A. Stegmann, Stephen P. Robertson, Adila Al-Kindy, Maian Roifman, Saori Tanabe, Vera Riehmer, Brain H Y Chung, Arie van Haeringen, G. Eda Utine, Yasemin Alanay, Rogier Kersseboom, John B. Moeschler, Barbara Oehl-Jaschkowitz, Katherine Berry, Denise Horn, Alice Gardham, Shane McKee, Anwar Baban, Amparo Sanchis Calvo, Golder N. Wilson, Krystyna H. Chrzanowska, G. M. S. Mancini, Ellen R. Elias, Małgorzata Krajewska-Walasek, Rolph Pfundt, Sarju G. Mehta, Fabienne G. Ropers, Seiji Mizuno, David Hunt, Caroline Pottinger, Dagmar Wieczorek, Yoyo W. Y. Chu, Laurent Pasquier, Bernd Wollnik, Nobuhiko Okamoto, Sunita Venkateswaran, Vanesa López-González, Natalie Canham, Blanca Gener, Anne Destree, Christina Fagerberg, Rachel K. Earl, Sharon N M Olminkhof, Nursel Elcioglu, Charlotte W. Ockeloen, Carlo Marcelis, Samantha A. Vergano, Hermine E. Veenstra-Knol, Anneke T. Vulto-van Silfhout, Allan Bayat, Catheline Vilain, Lucia Solaeche
Publikováno v:
Genetics in Medicine, 21(6), 1295-1307. Nature Publishing Group
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Genetics in Medicine
Genetics in Medicine, 21, 6, pp. 1295-1307
Genetics in Medicine, 21(6), 1295-1307. Lippincott Williams & Wilkins
Genetics in medicine, 21(6), 1295-1307. Lippincott Williams and Wilkins
Genetics in Medicine, 21, 1295-1307
Genetics in Medicine, 21(6), 1295-1307. NATURE PUBLISHING GROUP
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Clayton-Smith, J & et al 2018, ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0330-z
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Genetics in Medicine
Genetics in Medicine, 21, 6, pp. 1295-1307
Genetics in Medicine, 21(6), 1295-1307. Lippincott Williams & Wilkins
Genetics in medicine, 21(6), 1295-1307. Lippincott Williams and Wilkins
Genetics in Medicine, 21, 1295-1307
Genetics in Medicine, 21(6), 1295-1307. NATURE PUBLISHING GROUP
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Clayton-Smith, J & et al 2018, ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0330-z
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARI
Autor:
Mitsuhiro Kato, Grazia M.S. Mancini, Krystyna H. Chrzanowska, Alexander P.A. Stegmann, Stephen P. Robertson, Suzanne C E H Sallevelt, Yasemin Alanay, Melissa Lees, Sarju G. Mehta, Anne Destree, Emilia K. Bijlsma, Seiji Mizuno, David Hunt, Laurent Pasquier, H. lya Kayserili, Karin R. Heitink, Ineke van der Burgt, Christian Netzer, Duco Steenbeek, Mónica Roselló, Rachel K. Earl, Sharon N. M. Olminkhof, Arie van Haeringen, Katherine Berry, Ute Grasshoff, Francisco Martínez, Alwin F. J. Brouwer, Nursel Elcioglu, Patricia G. Wheeler, Rolph Pfundt, Shane McKee, Maian Roifman, Yoyo W. Y. Chu, Brain H. Y. Chung, John B. Moeschler, Barbara Oehl-Jaschkowitz, Denise Horn, Karin Dahan, Ellen R. Elias, Natalie Canham, Pelin Ozlem Simsek-Kiper, Vanesa López-González, Samantha A. Vergano, Tracy Dudding-Byth, Esra Kılıç, Charlotte W. Ockeloen, Carlo Marcelis, Levinus A. Bok, Gijs W. E. Santen, Philippe M. Campeau, Kylin Lammers, Anneke T. Vulto-van Silfhout, Stefanie Beck-Wödl, Allan Bayat, Eyyup Uctepe, Louise C. Wilson, Sarina G. Kant, Pleuntje J. van der Sluijs, Fatma Mujgan Sonmez, Tomoki Kosho, Marianne McGuire, Evan E. Eichler, Mahmut Şamil Sağıroğlu, Vera Riehmer, Caroline Rooryck, Miho Adachi-Fukuda, Rogier Kersseboom, Saskia M. Maas, Jeff M. Milunsky, Johanna C. Herkert, Anwar Baban, Nicolette S. den Hollander, Amparo Sanchis Calvo, Lone W. Laulund, Sandra Jansen, Golder N. Wilson, Kay Metcalfe, Fabienne G. Ropers, Caroline Pottinger, Gabriela Soares, Isabelle Maystadt, Miranda Splitt, Constance T. R. M. Stumpel, Catherine Vincent-Delorme, Bert B.A. de Vries, Jill Clayton-Smith, Claudia A. L. Ruivenkamp, Marjan De Rademaeker, Bernd Wollnik, Nobuhiko Okamoto, Christina Fagerberg, Erica H. Gerkes, Damien Lederer, Carmen Orellana, Alice Gardham, Saori Tanabe, Małgorzata Krajewska-Walasek, Adila Al-Kindy, Catheline Vilain, Dagmar Wieczorek, G. Eda Utine, Sunita Venkateswaran, Blanca Gener, Lucia Solaeche, Hermine E. Veenstra-Knol
Publikováno v:
Genetics in Medicine
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Articl