Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Hennekam Raoul CM"'
Autor:
Hennekam Raoul CM
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 5, Iss Suppl 1, p O11 (2010)
Externí odkaz:
https://doaj.org/article/f27c818cdbb64bd99d4ecb268f0044e5
Autor:
Poretti Andrea, Vitiello Giuseppina, Hennekam Raoul CM, Arrigoni Filippo, Bertini Enrico, Borgatti Renato, Brancati Francesco, D'Arrigo Stefano, Faravelli Francesca, Giordano Lucio, Huisman Thierry AGM, Iannicelli Miriam, Kluger Gerhard, Kyllerman Marten, Landgren Magnus, Lees Melissa M, Pinelli Lorenzo, Romaniello Romina, Scheer Ianina, Schwarz Christoph E, Spiegel Ronen, Tibussek Daniel, Valente Enza, Boltshauser Eugen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 4 (2012)
Abstract Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar ve
Externí odkaz:
https://doaj.org/article/b405c0f34bd74e599e110aaa310a9b3d
Autor:
Hennekam, Raoul CM.
Publikováno v:
In European Journal of Medical Genetics May-June 2011 54(3):220-224
Publikováno v:
European Journal of Human Genetics. Jan1998, Vol. 6 Issue 1, p71. 4p.
Autor:
Brune, Thomas, Gisèle Bonne, Denecke, Jonas, Elcioglu, Nursel, Hennekam, Raoul Cm, Marquardt, Thorsten, Ozgen, Heval, Stamsnijder, Marjet, Steichen, Elisabeth, Steinmann, Beat, Wehnert, Manfred, Levy, Nicolas
Publikováno v:
Pediatric endocrinology reviews, 2(1), 39-45. YS Medical Media Ltd.
ResearcherID
ResearcherID
Progeria is a rare, genetically determined condition characterized by accelerated aging in children. Its name is derived from Greek (Geron) and means "prematurely old". The classic type is the Hutchinson-Gilford Progeria Syndrome (HGPS), which was fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0aa92417f2695e5034c2c0b081d01c29
https://pure.amc.nl/en/publications/progeria-a-new-kind-of-laminopathy-report-of-the-first-european-symposium-on-progeria-and-creation-of-europrogeria-a-european-consortium-on-progeria-and-related-disorders(5e33a15c-112a-4431-a49c-ab60a17f732d).html
https://pure.amc.nl/en/publications/progeria-a-new-kind-of-laminopathy-report-of-the-first-european-symposium-on-progeria-and-creation-of-europrogeria-a-european-consortium-on-progeria-and-related-disorders(5e33a15c-112a-4431-a49c-ab60a17f732d).html
Autor:
Bellini, Carlo, Hennekam, Raoul CM
Publikováno v:
Developmental Aspects of the Lymphatic Vascular System; 2014, p187-204, 18p
Autor:
Oduber, Charlène EU, Young-Afat, Danny A, van der Wal, Allard C, van Steensel, Maurice AM, Hennekam, Raoul CM, van der Horst, Chantal MAM
Publikováno v:
Vascular Medicine; Aug2013, Vol. 18 Issue 4, p185-191, 7p, 1 Color Photograph, 1 Black and White Photograph, 1 Diagram, 1 Chart
Autor:
Bellini, Carlo, Hennekam, Raoul CM
Publikováno v:
American Journal of Medical Genetics. Part A; Mar2012, Vol. 158A Issue 3, p597-605, 9p
Autor:
Von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, D'Apice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul CM, Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze, Nagel, Gabriele, Novelli, Giuseppe, Santini, Ferruccio, Santos Silva, Ermelinda, Savage, David B, Sbraccia, Paolo, Schaaf, Jannik, Sorkina, Ekaterina, Tanteles, George, Vantyghem, Marie-Christine, Vatier, Camille, Vigouroux, Corinne, Vorona, Elena, Araújo-Vilar, David, Wabitsch, Martin
BACKGROUND: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2bd029cbbe0b7c84e84dea9fc789a183
Autor:
See, Peter, Dutertre, Charles-Antoine, Chen, Jinmiao, Günther, Patrick, McGovern, Naomi, Irac, Sergio Erdal, Gunawan, Merry, Beyer, Marc, Händler, Kristian, Duan, Kaibo, Sumatoh, Hermi Rizal Bin, Ruffin, Nicolas, Jouve, Mabel, Gea-Mallorquí, Ester, Hennekam, Raoul CM, Lim, Tony, Yip, Chan Chung, Wen, Ming, Malleret, Benoit, Low, Ivy, Shadan, Nurhidaya Binte, Fen, Charlene Foong Shu, Tay, Alicia, Lum, Josephine, Zolezzi, Francesca, Larbi, Anis, Poidinger, Michael, Chan, Jerry KY, Chen, Qingfeng, Rénia, Laurent, Haniffa, Muzlifah, Benaroch, Philippe, Schlitzer, Andreas, Schultze, Joachim L, Newell, Evan W, Ginhoux, Florent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51af62adcf3aabc5c0bfc8b1c939978e