المؤلفون: Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.

المصدر: Dingemans , A J M , Stremmelaar , D E , Vissers , L E L M , Jansen , S , Nabais Sá , M J , van Remortele , A , Jonis , N , Truijen , K , van de Ven , S , Ewals , J , Verbruggen , M , Koolen , D A , Brunner , H G , Eichler , E E , Gecz , J & de Vries , B B A 2021 , ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ' ....

الاتاحة: https://research.vumc.nl/en/publications/f8c414c6-6f5a-48b0-8e0f-c9d96762c300
https://doi.org/10.1002/ajmg.a.62057
http://www.scopus.com/inward/record.url?scp=85099365598&partnerID=8YFLogxK

المؤلفون: Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge

المساهمون: Canadian Institute for Health Research, WIMM Strategic Alliance, National Institute for Health Research

المصدر: Journal of Medical Genetics ; volume 59, issue 8, page 776-780 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2020-107572
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2020-107572

المؤلفون: Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean Philippe P., de Vries, Bert B.A.

المساهمون: Genetica, KTO Office, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: BET protein, craniofacial dysmorphisms, de novo mutation, germ line mutation, intellectual disabilty syndrome, macrocephaly, microcephaly, missense mutation, neurodevelopmental disorder, SPOP, Humans, Child, Preschool, Infant, Male, Mutation, Missense, Young Adult, Facies, Female, Nuclear Proteins/genetics, Repressor Proteins/genetics, Intellectual Disability/genetics, Adolescent, Skull/abnormalities, Neurodevelopmental Disorders/genetics, Genetics(clinical), Genetics, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/439802

الاتاحة: https://dspace.library.uu.nl/handle/1874/439802

المؤلفون: Nabais Sá, Maria J, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, de Brouwer, Arjan P M, Dinman, Jonathan D, de Vries, Bert B A

المساهمون: Dutch Organization for Health Research and Development, National Institutes of Health

المصدر: Human Molecular Genetics ; volume 29, issue 24, page 3892-3899 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddaa270
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa270/36197028/ddaa270.pdf
http://academic.oup.com/hmg/article-pdf/29/24/3892/36356457/ddaa270.pdf

المؤلفون: Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.

المصدر: Genetics in Medicine ; volume 22, issue 4, page 797-802 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-019-0703-y
http://www.nature.com/articles/s41436-019-0703-y.pdf
http://www.nature.com/articles/s41436-019-0703-y
https://api.elsevier.com/content/article/PII:S1098360021011461?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021011461?httpAccept=text/plain

المؤلفون: Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P. M., de Vries, Bert B. A., Vulto-vanSilfhout, Anneke T

المصدر: Nabais Sá , M J , Jensik , P J , McGee , S R , Parker , M J , Lahiri , N , McNeil , E P , Kroes , H Y , Hagerman , R J , Harrison , R E , Montgomery , T , Splitt , M , Palmer , E E , Sachdev , R K , Mefford , H C , Scott , A A , Martinez-Agosto , J A , Lorenz , R , Orenstein , N , Berg , J N , Amiel , J , Heron , D , ....

مصطلحات موضوعية: DEAF1, genotype, intellectual disability, neurodevelopmental disorder, phenotype, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

Relation: https://discovery.dundee.ac.uk/en/publications/74492ddf-8fe6-481c-8017-0598263aa0aa

الاتاحة: https://discovery.dundee.ac.uk/en/publications/74492ddf-8fe6-481c-8017-0598263aa0aa
https://doi.org/10.1038/s41436-019-0473-6
http://www.scopus.com/inward/record.url?scp=85063615212&partnerID=8YFLogxK

المؤلفون: Maia, Nuno, Nabais Sá, Maria J., Tkachenko, Nataliya, Soares, Gabriela, Marques, Isabel, Rodrigues, Bárbara, Fortuna, Ana M., Santos, Rosário, de Brouwer, Arjan P.M., Jorge, Paula

المصدر: Molecular Syndromology ; volume 9, issue 1, page 45-51 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000479177
https://www.karger.com/Article/Pdf/479177

المؤلفون: Genetica, KTO Office, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean Philippe P., de Vries, Bert B.A.

URL: https://doi.org/10.1016/j.ajhg.2020.02.001
http://hdl.handle.net/1874/439802
https://dspace.library.uu.nl/handle/1874/439802
http://www.scopus.com/inward/record.url?scp=85080150848&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
106
3
405
411

المؤلفون: Nabais Sa, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurelien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amelie, Vincent, Catherine, Zweier, Christiane, Reis, Andre, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, Van Dooren, Marieke F., Van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michel A., De Vries, Bert B. A., De Brouwer, Arjan P. M., Koolen, David A.

المساهمون: Université de Lille

مصطلحات موضوعية: intellectual disability, neurodevelopmental disorder, CLTC

Relation: Genetics in medicine . official journal of the American College of Medical Genetics; Genet. Med.; http://hdl.handle.net/20.500.12210/55452

الاتاحة: https://hdl.handle.net/20.500.12210/55452

المؤلفون: Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge

المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 8 p776-780, 5p

المؤلفون: Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B. A., de Brouwer, Arjan P. M., Koolen, David A.

المصدر: Genetics in Medicine; April 2020, Vol. 22 Issue: 4 p797-802, 6p

المؤلفون: Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

المصدر: Genetics in Medicine; September 2019, Vol. 21 Issue: 9 p2059-2069, 11p

المؤلفون: Maia, Nuno, Nabais Sá, Maria J., Tkachenko, Nataliya, Soares, Gabriela, Marques, Isabel, Rodrigues, Bárbara, Fortuna, Ana M., Santos, Rosário, de Brouwer, Arjan P.M., Jorge, Paula

المصدر: Molecular Syndromology; 20240101, Issue: Preprints