المؤلفون: Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste, Dobyns, William B, Pilz, Daniela T

المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014)

مصطلحات موضوعية: Abnormalities, Multiple, Female, Gene Order, Genetic Loci, Humans, Male, Mutation, Phenotype, Young Adult, Actins, Adolescent, Adult, Amino Acid Substitution, Child, Preschool, Craniofacial Abnormalities, Facies

العلاقة: boreal:175843; http://hdl.handle.net/2078.1/175843Test; info:pmid/25052316; urn:ISSN:1018-4813; urn:EISSN:1476-5438

الإتاحة: https://doi.org/10.1038/ejhg.2014.95Test
http://hdl.handle.net/2078.1/175843Test

المؤلفون: Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Albert, Devriendt, Koen, Eftekhari, Pirayeh, Drouin-Garraud, Valérie, Faravelli, Francesca, Faivre, Laurence, Giuliano, Fabienne, Guion Almeida, Leina, Juncos, Jorge, Kempers, Marlies, Eker, Hatice Koçak, Lacombe, Didier, Lin, Angela, Mancini, Grazia, Melis, Daniela, Lourenço, Charles Marques, Siu, Victoria Mok, Morin, Gilles, Nezarati, Marjan, Nowaczyk, Malgorzata J M, Ramer, Jeanette C, Osimani, Sara, Philip, Nicole, Pierpont, Mary Ella, Procaccio, Vincent, Roseli, Zeichi-Seide, Rossi, Massimiliano, Rusu, Cristina, Sznajer, Yves, Templin, Ludivine, Uliana, Vera, Klaus, Mirjam, Van Bon, Bregje, Van Ravenswaaij, Conny, Wainer, Bruce, Fry, Andrew E, Rump, Andreas, Hoischen, Alexander, Drunat, Séverine, Rivière, Jean-Baptiste

المصدر: European Journal of Human Genetics ; volume 23, issue 3, page 292-301 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.95Test
http://www.nature.com/articles/ejhg201495.pdfTest
http://www.nature.com/articles/ejhg201495Test

المؤلفون: Schengrund, Cara-Lynne, Ali-Rahmani, Fatima, Ramer, Jeanette C.

المصدر: Neurochemical Research ; volume 37, issue 6, page 1201-1207 ; ISSN 0364-3190 1573-6903

مصطلحات موضوعية: Cellular and Molecular Neuroscience, General Medicine, Biochemistry

الإتاحة: https://doi.org/10.1007/s11064-011-0697-6Test

المؤلفون: Miller, Geoffrey, Tesman, Johanna R., Ramer, Jeanette C., Baylen, Barry G., Myers, John L.

المصدر: Journal of Child Neurology ; volume 11, issue 1, page 49-53 ; ISSN 0883-0738 1708-8283

الإتاحة: https://doi.org/10.1177/088307389601100112Test

المؤلفون: Hess, Ellen J., Rogan, Peter K., Domoto, Mark, Tinker, Dorris E., Ladda, Roger L., Ramer, Jeanette C.

المصدر: American Journal of Medical Genetics ; volume 60, issue 6, page 573-579 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.1320600619Test

المؤلفون: Ramer, Jeanette C., Lin, Angela E., Dobyns, William B., Winter, Robin, Aymé, Ségolène, Pallotta, Rosanna, Ladda, Roger L.

المصدر: American Journal of Medical Genetics ; volume 57, issue 3, page 403-409 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.1320570308Test

المؤلفون: Miller, Geoffrey, Tesman, Johanna R., Ramer, Jeanette C., Baylen, Barry G., Myers, John L.

المصدر: Pediatric Neurology ; volume 11, issue 2, page 99-100 ; ISSN 0887-8994

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/0887-8994Test(94)90201-1
https://api.elsevier.com/content/article/PII:0887899494902011?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:0887899494902011?httpAccept=text/plainTest

المؤلفون: Ladda, Roger L., Zonana, Jonathan, Ramer, Jeanette C., Mascari, Maria J., Rogan, Peter K.

المصدر: American Journal of Medical Genetics ; volume 47, issue 4, page 550-555 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.1320470422Test

المؤلفون: Stratis, John P., Ramer, Jeanette C., Manders, Ernest K., Lehman, Ralph A., Ladda, Roger L.

المصدر: American Journal of Medical Genetics ; volume 44, issue 2, page 197-199 ; ISSN 0148-7299 1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.1320440215Test

المؤلفون: Bowers, Thomas G., Risser, Marcia G., Suchanec, John F., Tinker, Dorris E., Ramer, Jeanette C., Domoto, Mark

المصدر: Journal of Learning Disabilities ; volume 25, issue 3, page 179-185 ; ISSN 0022-2194 1538-4780

مصطلحات موضوعية: General Health Professions, Education, Health (social science)

الإتاحة: https://doi.org/10.1177/002221949202500305Test