المؤلفون: Choufani, Sanaa, Ko, Jung Min, Lou, Youliang, Shuman, Cheryl, Fishman, Leona, Weksberg, Rosanna

وصف الملف: application/pdf

Relation: Genes 12 (2): 172 (2021); http://hdl.handle.net/1807/104464

الاتاحة: http://hdl.handle.net/1807/104464
https://doi.org/10.3390/genes12020172

المؤلفون: Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl

المصدر: npj Genomic Medicine ; volume 1, issue 1 ; ISSN 2056-7944

الاتاحة: http://dx.doi.org/10.1038/npjgenmed.2015.12
https://www.nature.com/articles/npjgenmed201512.pdf
https://www.nature.com/articles/npjgenmed201512

المؤلفون: Fung, Wai Lun Alan, Butcher, Nancy J., Costain, Gregory, Andrade, Danielle M., Boot, Erik, Chow, Eva W. C., Chung, Brian, Cytrynbaum, Cheryl, Faghfoury, Hanna, Fishman, Leona, Garcia-Minar, Sixto, George, Susan, Lang, Anthony E., Repetto, Gabriela, Shugar, Andrea, Silversides, Candice, Swillen, Ann, van Amelsvoort, Therese, McDonald-McGinn, Donna M., Bassett, Anne S.

المصدر: Fung , W L A , Butcher , N J , Costain , G , Andrade , D M , Boot , E , Chow , E W C , Chung , B , Cytrynbaum , C , Faghfoury , H , Fishman , L , Garcia-Minar , S , George , S , Lang , A E , Repetto , G , Shugar , A , Silversides , C , Swillen , A , van Amelsvoort , T , McDonald-McGinn , D M & Bassett , A S 2015 , ' Practical guidelines for managing adults with 22q11.2 ....

مصطلحات موضوعية: 22q11.2 deletion, clinical practice guidelines, DiGeorge syndrome, treatment, velocardiofacial syndrome

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/a43e2851-9df1-47e8-a76a-acae9b84125e
https://doi.org/10.1038/gim.2014.175

المؤلفون: Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman, Leona, Riviello, James J., Nowaczyk, Malgorzata J.M., Zeesman, Susan, Rosenfeld, Jill A., Bejjani, Bassem A., Shaffer, Lisa G., Cheung, Sau Wai, Lupski, James R., Stankiewicz, Pawel, Scaglia, Fernando

المصدر: Genetics in Medicine ; volume 14, issue 10, page 868-876 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2012.65
http://www.nature.com/articles/gim201265.pdf
http://www.nature.com/articles/gim201265
https://api.elsevier.com/content/article/PII:S109836002102325X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002102325X?httpAccept=text/plain

المؤلفون: Shugar, Andrea L., Shapiro, Jessica M., Cytrynbaum, Cheryl, Hedges, Stephanie, Weksberg, Rosanna, Fishman, Leona

مصطلحات موضوعية: 22q11 deletion syndrome, Pediatric, Thyroid disease, Prevalence

الاتاحة: https://espace.library.uq.edu.au/view/UQ:364293

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: Stachon, Andrea C., Baskin, Berivan, Smith, Adam C., Shugar, Andrea, Cytrynbaum, Cheryl, Fishman, Leona, Mendoza‐Londono, Roberto, Klatt, Regan, Teebi, Ahmed, Ray, Peter N., Weksberg, Rosanna

المصدر: American Journal of Medical Genetics Part A ; volume 143A, issue 24, page 2924-2930 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.32101
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32101
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32101

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: John Holland, F, Fishman, Leona, Colm Costigan, D, Steven Leeder, J, Fazekas, Atilla T

المصدر: Pediatric Research ; volume 19, issue 6, page 633-633 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-198506000-00198

المؤلفون: John Holland, F, Fishman, Leona, Bailey, John P

المصدر: Pediatric Research ; volume 19, issue 6, page 605-605 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-198506000-00031

المؤلفون: Holland, F John, Fishman, Leona, Bailey, John D, Kooh, S W

المصدر: Pediatric Research ; volume 19, issue 4, page 186A-186A ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-198504000-00485

المؤلفون: Holland, F. John, Fishman, Leona, Costigan, D. Colm, Leeder, J. Steven, Fazekas, Atilla T.

المصدر: Pediatric Research (Ovid); June 1985, Vol. 19 Issue: 6 p633-633, 1p

المؤلفون: Holland, F. John, Fishman, Leona, Bailey, John P.

المصدر: Pediatric Research (Ovid); June 1985, Vol. 19 Issue: 6 p605-605, 1p

المؤلفون: Holland, F. John, Fishman, Leona, Bailey, John D., Kooh, S. W.

المصدر: Pediatric Research (Ovid); April 1985, Vol. 19 Issue: Supplement 1 p186A-186A, 1p