Paulien Anna Terhal (Paulien A Terhal, Paulien Terhal)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 5

Top Topics

Prognostic Factors

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Science (New York, N.Y.)

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

Publications

Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, Francois Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian H Hauck, Waleed Al Herz, Matias Wagner, Paulien Anna Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaëtan Lesca, Laurence Olivier-Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane G Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoit Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan N Similuk, Kirsty McWalter, Pierre Blanc, Stephane Bezieau, Tian Jin, Raif S Geha, Jean Laurent Casanova, Outimaija Mäkitie, Christian Kubisch, Patrick Edery, John Chrisodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su
Germline mutations in a G protein identify signaling cross-talk in T cells. Science (New York, N.Y.) 385 (6715) (2024)
Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L M Marcelis, Riikka Keski-Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Anna Terhal, Maria Irene Valenzuela Palafoll, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Brian H Chhouk, Rebecca C Yeh, Jennifer E Neil, Bassam Abu-Libde, Tjitske Kleefstra, Mariet W Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M van Hagen, Arjan Pm de Brouwer
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. American journal of medical genetics. Part A (2022)
Maartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal, Sarina G Kant, Claudia Ruivenkamp, Arie van Haeringen, J Anneke Kievit, Martine J van Belzen
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome. American journal of medical genetics. Part A 176 (5) (2019)
Leonie A Menke, null null, Thatjana Gardeitchik, Peter Hammond, Ketil R Heimdal, Gunnar Houge, Sophia B Hufnagel, Jianling Ji, Stefan Johansson, Sarina G Kant, Esther Kinning, Eyby L Leon, Ruth Newbury-Ecob, Stefano Paolacci, Rolph Pfundt, Nicola K Ragge, Tuula Rinne, Claudia Ruivenkamp, Sulagna C Saitta, Yu Sun, Marco Tartaglia, Paulien Anna Terhal, Anthony J van Essen, Magnus D Vigeland, Bing Xiao, Raoul C Hennekam
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. American journal of medical genetics. Part A 176 (4) (2018)
Paulien Anna Terhal, Nienke E Verbeek, Nine Knoers, Rutger J A J Nievelstein, Ans van den Ouweland, Ralph J Sakkers, Lucienne Speleman, Gijs van Haaften
Further delineation of the GDF6 related multiple synostoses syndrome. American journal of medical genetics. Part A 176 (1) (2017)