Novel DNMT3A germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome by Xin, B., Cruz Marino, T., Szekely, J., Leblanc, J., Cechner, K., Sency, V., Wensel, C., Barabas, M., Therriault, V., Wang, H.

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Early growth and development impairments in patients with ganglioside GM3 synthase deficiency by Wang, H., Wang, A., Wang, D., Bright, A., Sency, V., Zhou, A., Xin, B.

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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual di... by Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O, Zaki, Maha S, Duan, Ruizhi, Zhu, Changlian, Xu, Yiran, Gao, Chao, Sepulveda-Morales, Tania, Maroofian, Reza, Alkhawaja, Issam A, Khawaja, Mariam, Alhalasah, Hunaida, Houlden, Henry, Madden, Jill A, Turchetti, Valentina, Marafi, Dana, Agrawal, Pankaj B, Schatz, Ulrich, Rotenberg, Ari, Rotenberg, Joshua, Mancini, Grazia M S, Bakhtiari, Somayeh, Kruer, Michael, Thiffault, Isabelle, Hirsch, Steffen, Hempel, Maja, Stühn, Lara G, Haack, Tobias B, Posey, Jennifer E, Lupski, James R, Lee, Hyunpil, Sarn, Nicholas B, Eng, Charis, Gonzaga-Jauregui, Claudia, Zhang, Bin, Wang, Heng

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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency by Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J.

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