De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders by Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.

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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus by Nabais Sá, Maria J, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, de Brouwer, Arjan P M, Dinman, Jonathan D, de Vries, Bert B A

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Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information by Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, Vries, Bert B. A.

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Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome by Maia, Nuno, Nabais Sá, Maria J., Tkachenko, Nataliya, Soares, Gabriela, Marques, Isabel, Rodrigues, Bárbara, Fortuna, Ana M., Santos, Rosário, de Brouwer, Arjan P.M., Jorge, Paula

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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels by Sá, Maria João Nabais, Rocha, Júlio C., Almeida, Manuela F., Carmona, Carla, Martins, Esmeralda, Miranda, Vasco, Coutinho, Miguel, Ferreira, Rita, Pacheco, Sara, Laranjeira, Francisco, Ribeiro, Isaura, Fortuna, Ana Maria, Lacerda, Lúcia

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