المؤلفون: Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J, Irvine, Alan D, Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R, Burrows, Patricia E, Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K, Wilson, Ashley, Gardiner, Carol A, Dwight, Yim, Lord, David J E, Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria Del C, Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E, Salhi, Aicha, Tan, Oon T, Wargon, Orli, Mulliken, John B, Vikkula, Miikka

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Centre de malformations vasculaires congénitales

المصدر: Human Mutation, Vol. 34, no.12, p. 1632-1641 (2013)

مصطلحات موضوعية: Amino Acid Substitution, Mutation, Phenotype, Port-Wine Stain, Prospective Studies, Retrospective Studies, p120 GTPase Activating Protein, Arteriovenous Malformations, Capillaries, DNA Mutational Analysis, Female, Gene Order, Genetic Association Studies, Humans, Male

Relation: boreal:156811; http://hdl.handle.net/2078.1/156811; info:pmid/24038909; urn:ISSN:1059-7794; urn:EISSN:1098-1004

الاتاحة: http://hdl.handle.net/2078.1/156811
https://doi.org/10.1002/humu.22431

المؤلفون: Torrelo, Antonio, Boente, María del C., Nieto, Olga, Asial, Raúl, Colmenero, Isabel, Winik, Beatriz, Zambrano, Antonio, Happle, Rudolf

المصدر: Pediatric Dermatology ; volume 22, issue 3, page 206-209 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/j.1525-1470.2005.22305.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1525-1470.2005.22305.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1525-1470.2005.22305.x

المؤلفون: Boente, María del C., Primc, Norma B., Asial, Raúl A., Winik, Beatriz C.

المصدر: Pediatric Dermatology ; volume 21, issue 1, page 33-38 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/j.0736-8046.2004.21106.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0736-8046.2004.21106.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0736-8046.2004.21106.x

المؤلفون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Service de radiologie, UCL - (SLuc) Centre de malformations vasculaires congénitales, Revencu, Nicole, Boon, Laurence M., Mendola, Antonella, Cordisco, Maria Rosa, Dubois, Josée, Clapuyt, Philippe, Hammer, Frank, Amor, David J, Irvine, Alan D, Baselga, Eulalia, Dompmartin, Anne, Syed, Samira, Martin-Santiago, Ana, Ades, Lesley, Collins, Felicity, Smith, Janine, Sandaradura, Sarah, Barrio, Victoria R, Burrows, Patricia E, Blei, Francine, Cozzolino, Mariarosaria, Brunetti-Pierri, Nicola, Vicente, Asuncion, Abramowicz, Marc, Désir, Julie, Vilain, Catheline, Chung, Wendy K, Wilson, Ashley, Gardiner, Carol A, Dwight, Yim, Lord, David J E, Fishman, Leona, Cytrynbaum, Cheryl, Chamlin, Sarah, Ghali, Fred, Gilaberte, Yolanda, Joss, Shelagh, Boente, Maria Del C, Léauté-Labrèze, Christine, Delrue, Marie-Ange, Bayliss, Susan, Martorell, Loreto, González-Enseñat, Maria-Antonia, Mazereeuw-Hautier, Juliette, O'Donnell, Brid, Bessis, Didier, Pyeritz, Reed E, Salhi, Aicha, Tan, Oon T, Wargon, Orli, Mulliken, John B, Vikkula, Miikka

المصدر: Human Mutation, Vol. 34, no.12, p. 1632-1641 (2013)

مصطلحات الفهرس: Amino Acid Substitution, Mutation, Phenotype, Port-Wine Stain, Prospective Studies, Retrospective Studies, p120 GTPase Activating Protein, Arteriovenous Malformations, Capillaries, DNA Mutational Analysis, Female, Gene Order, Genetic Association Studies, Humans, Male, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/156811

المؤلفون: Boente, Maria del C., Cordisco, Maria R., Frontini, Maria del V., Asial, Raúl A.

المصدر: Pediatric Dermatology ; volume 16, issue 3, page 222-227 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1046/j.1525-1470.1999.00065.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1525-1470.1999.00065.x
https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1525-1470.1999.00065.x
https://onlinelibrary.wiley.com/doi/full-xml/10.1046/j.1525-1470.1999.00065.x

المؤلفون: Boente, María del C., Winik, Beatriz C., Asial, Raúl A.

المصدر: Pediatric Dermatology ; volume 16, issue 2, page 113-117 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1046/j.1525-1470.1999.00027.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1525-1470.1999.00027.x
https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1525-1470.1999.00027.x
https://onlinelibrary.wiley.com/doi/full-xml/10.1046/j.1525-1470.1999.00027.x

المؤلفون: Boente, Maria del C., Frontini, Maria del V., Acosta, Maria I., Saleme, César, Barrionuevo, Silvia, Asial, Raül

المصدر: Pediatric Dermatology ; volume 12, issue 3, page 228-230 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/j.1525-1470.1995.tb00164.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1525-1470.1995.tb00164.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1525-1470.1995.tb00164.x

المؤلفون: Bonet, Hilda Bibas, Boente, Maria del C., Lavado, Graciela, Avila, Silvia, Salman, José

المصدر: Pediatric Neurology ; volume 8, issue 5, page 380 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/0887-8994(92)90232-n
https://api.elsevier.com/content/article/PII:088789949290232N?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:088789949290232N?httpAccept=text/plain

المؤلفون: Boente, Maria del C., Prime, Norma, Veliche, Hugo, Rosales, S., Valenzuela, Roque Carrero, Saleme, Cesar, Asial, Raul

المصدر: Pediatric Dermatology. Sep1999, Vol. 16 Issue 5, p367. 4p. 6 Black and White Photographs.

مصطلحات موضوعية: *BALDNESS, *INFANT diseases, *FACIAL abnormalities