Raoul C M Hennekam (Raoul C Hennekam)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 9

Top Venues

American journal of medical genetics. Part A

Human mutation

FEBS letters

Human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Ileana Cristea, Hugo Hernán Abarca Barriga, Anne E Christensen Mellgren, Milana Trubnykova, Roya Mehrasa, Dorien J M Peters, Gunnar Houge, Raoul C M Hennekam, Eyvind Rødahl, Ove Bruland, Cecilie Bredrup
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia. FEBS letters (2023)
Daniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, Alberto J Espay, Michael J Gambello, Blanca Gener, Erica Gerkes, Marrit M Hitzert, Hanne B Hove, Sandra Jansen, Petr E Jira, Katherine Lachlan, Leonie A Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance Stumpel, Kyra E Stuurman, Viviana Cordeddu, Peter Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C M Hennekam
Primrose syndrome: Characterization of the phenotype in 42 patients. Clinical genetics 97 (6) (2020)
Lianne C Krab, Íñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Anne-Marie Bisgaard, David R Fitzpatrick, Sanna Gudmundsson, Sylvia A Huisman, Tugba Kalayci, Saskia M Maas, Francisco Martinez Castellano, Margo Whiteford, Leonie A Menke, Paul A Mulder, Oliver D Murch, Michael Parker, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Jill Anne Rosenfeld, Emanuela Scarano, Marwan S Shinawi, Paulino Gómez-Puertas, Zeynep Tümer, Raoul C M Hennekam
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Human genetics 139 (5) (2020)
Floor A M Postema, Jan C Oosterwijk, Raoul C M Hennekam
Genetic control of tumor development in malformation syndromes. American journal of medical genetics. Part A 185 (2) (2020)
Muriel De La Dure-Molla, Benjamin Philippe Fournier, Maria Cristina Manzanares, Ana Carolina Acevedo, Raoul C M Hennekam, Lisa Friedlander, Marie-Laure Boy-Lefèvre, Stephane Kerner, Steve Toupenay, Pascal Garrec, Brigite Vi-Fane, Rufino Felizardo, Marie-Violaine Berteretche, Laurence Jordan, François Ferré, François Clauss, Sophie Jung, Myriam de Chalendar, Sebastien Troester, Marzena Kawczynski, Jessica Chaloyard, null null, Marie Cécile Manière, Ariane Berdal, Agnes Bloch-Zupan
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders. American journal of medical genetics. Part A 179 (10) (2019)
Floor A M Postema, Jet Bliek, Carel J M van Noesel, Laura J C M van Zutven, Jan C Oosterwijk, Saskia M J Hopman, Johannes H M Merks, Raoul C M Hennekam
Multiple tumors due to mosaic genome-wide paternal uniparental disomy. Pediatric blood & cancer 66 (6) (2019)
Suzanna G M Frints, Friederike Hennig, Roberto Colombo, Sebastien Jacquemont, Paulien Terhal, Holly H Zimmerman, David Hunt, Bryce A Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul-Rahman, Vanessa Suckow, Alberto Fernández-Jaén, Kees van Roozendaal, Servi J C Stevens, Merryn V E Macville, Salwan Al-Nasiry, Koen van Gassen, Norbert Utzig, Suzanne M Koudijs, Lesley McGregor, Saskia M Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S Lee, Elizabeth C Engle, Gunnar Houge, Gyri A Gradek, Andrew G L Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C M Hennekam, Hiromi Hirata, Vera M Kalscheuer
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human mutation 40 (12) (2019)
Ariana Kariminejad, Hassan Vahidnezhad, Siavash Ghaderi-Sohi, Ali R Ghannadan, Leila Youssefian, Elham Parsimehr, Mehrshid Faraji Zonooz, Mohammad H Kariminejad, Jouni Uitto, Hossein Najmabadi, Raoul C M Hennekam
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants. American journal of medical genetics. Part A 179 (8) (2019)
Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S Alkuraya, Pedro Arias, Laura Bernardini, Emilia K Bijlsma, Trevor Cole, Christine Coubes, Irene Dapia, Sally Davies, Nataliya Di Donato, Nursel H Elcioglu, Jill A Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M Maas, Corrado Mammì, Inge B Mathijssen, Shane McKee, Leonie A Menke, Ghayda M Mirzaa, Tara Montgomery, Dorothee Neubauer, Thomas E Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S Plomp, Sue Price, Claire Salter, Fernando Santos-Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw-Smith, Sarah Smithson, Mohnish Suri, Rita Maria Valdez, Arie Van Haeringen, Johanna M Van Hagen, Marcela Zollino, Pablo Lapunzina, Rajesh V Thakker, Martin Zenker, Raoul C M Hennekam
Further delineation of Malan syndrome. Human mutation 39 (9) (2018)

Raoul C M Hennekam.css-eqlu8i{font-size:small;padding-left:4px;} (Raoul C Hennekam)

Publication Activity (10 Years)

Top Topics

Top Venues

Raoul C M Hennekam (Raoul C Hennekam)