Early feeding practices in infants with phenylketonuria across Europe von Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., Forssell, E., Gingell, C., Gonçalves, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J.

Volltext

Weaning practices in phenylketonuria vary between health professionals in Europe von Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Bruni, G., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Corthouts, K., De Leo, S., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., Forssell, E., Gingell, C., Gökmen Özel, H., Grimsley, A., Gugelmo, G., Gyüre, E., Heller, C., Hensler, R., Jardim, I., Joost, C., Jörg-Streller, M., Jouault, C., Jung, A., Kanthe, M., Koç, N., Kok, I.L., Kozanoğlu, T., Kumru, B., Lang, F., Lang, K., Liegeois, I., Liguori, A., Lilje, R., Ļubina, O., Manta-Vogli, P., Mayr, D., Meneses, C., Newby, C., Meyer, U., Mexia, S., Nicol, C., Och, U., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Serrano-Nieto, J., Skarpalezou, A., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J.

Volltext

EP.117Charcot-Marie-Tooth neuropathy, intellectual disability, intractable epilepsy, aggressiveness, and biallelic MCM3AP variants in two sibs von Puusepp, S., Reinson, K., Pajusalu, S., Oiglane-Shlik, E., Ilves, P., Wojcik, M., Ounap, K.

Volltext

Regulatory landscape of providing information on newborn screening to parents across Europe von Frankova, Vera, Driscoll, Riona O., Jansen, Marleen E., Loeber, J. Gerard, Kozich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kus, Iva Bilandzija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapkova, Maria, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D., Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterstrom, Rolf H., Zeyda, Maximilian

Volltext

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey von van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

Volltext

Weaning practices in phenylketonuria vary between health professionals in Europe von Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M.F, Garcia-Arenas, D, Arslan, N, Assoun, M, Altinok, Y. Atik, Barrio-Carreras, D, Quintana, A. Belanger, Bernabei, S.M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyz, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M.E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengrena, J, Errekalde, I, Evans, S, Foucart, A, Fokkema, L, Francois, L, French, M, Forssell, E, Gingell, C, Goncalves, C, Ozel, H. Gokmen, Grimsley, A, Gugelmo, G, Gyure, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Joerg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koc, N, Kok, I.L, Kozanoglu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Lubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S.M, Pedron-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Dionigi, A. Re, Reinson, K, Robert, M, Robertson, L, Rocha, J.C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutierrez-Sanchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Gizewska, M, Terry, A

Volltext

Early feeding practices in infants with phenylketonuria across Europe von Pinto, A, Adams, S, Ahring, K, Allen, H, Almeida, M.F, Garcia-Arenas, D, Arslan, N, Assoun, M, Altinok, Y. Atik, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S.M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyz, K, Cochrane, B, Correia, C, Corthouts, Kathleen, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M.E, Dokoupil, K, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Errekalde, I, Evans, S, Foucart, A, Fokkema, L, Francois, L, French, M, Forssell, E, Gingell, C, Goncalves, C, Ozel, H. Gokmen, Grimsley, A, Gugelmo, G, Gyure, E, Heller, C, Hensler, R, Jardim, I, Joost, C, Joerg-Streller, M, Jouault, C, Jung, A, Kanthe, M, Koc, N, Kok, I.L, Kozanoglu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Liguori, A, Lilje, R, Lubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S.M, Pedron-Giner, C, Pereira, R, Plutowska-Hoffmann, K, Purves, J, Dionigi, A. Re, Reinson, K, Robert, M, Robertson, L, Rocha, J.C, Rohde, C, Rosenbaum-Fabian, S, Rossi, A, Ruiz, M, Saligova, J, Gutierrez-Sanchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Gizewska, M, Terry, A

Volltext

Rare pathogenic variants in WNK3 cause X-linked intellectual disability von Küry, S, Zhang, J, Besnard, T, Caro-Llopis, A, Zeng, X, Robert, SM, Josiah, SS, Kiziltug, E, Denommé-Pichon, AS, Cogné, B, Kundishora, AJ, Hao, LT, Li, H, Stevenson, RE, Louie, RJ, Deb, W, Torti, E, Vignard, V, McWalter, K, Raymond, FL, Rajabi, F, Ranza, E, Grozeva, D, Coury, SA, Blanc, X, Brischoux-Boucher, E, Keren, B, Õunap, K, Reinson, K, Ilves, P, Wentzensen, IM, Barr, EE, Guihard, SH, Charles, P, Seaby, EG, Monaghan, KG, Rio, M, van Bever, Y, van Slegtenhorst, M, Chung, WK, Wilson, A, Quinquis, D, Bréhéret, F, Retterer, K, Lindenbaum, P, Scalais, E, Rhodes, L, Stouffs, K, Pereira, EM, Berger, SM, Milla, SS, Jaykumar, AB, Cobb, MH, Panchagnula, S, Duy, PQ, Vincent, M, Mercier, S, Gilbert-Dussardier, B, Le Guillou, X, Audebert-Bellanger, S, Odent, S, Schmitt, S, Boisseau, P, Bonneau, D, Toutain, A, Colin, E, Pasquier, L, Redon, R, Bouman, A, Rosenfeld, JA, Friez, MJ, Pérez-Peña, H, Akhtar Rizvi, SR, Haider, S, Antonarakis, SE, Schwartz, CE, Martínez, F, Bézieau, S, Kahle, KT, Isidor, B

Volltext bestellen

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, R., Kvist, J., Andersson, N., Ounap, K., Reinson, K., Wojcik, M.H., Bijlsma, E.K., Hoffer, M.J.V., Ryan, M.M., Stark, Z., Walsh, M., Cuppen, I., Boogaard, M.J.H. van den, Bharucha-Goebel, D., Donkervoort, S., Winchester, S., Zori, R., Bonnemann, C.G., Maroofian, R., O'Connor, E., Houlden, H., Zhao, F., Carpen, O., White, M., Sreedharan, J., Stewart, M., Ylikallio, E., Tyynismaa, H.

Volltext bestellen

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia von Mencacci, NE, Brockmann, MM, Dai, J, Pajusalu, S, Atasu, B, Campos, J, Pino, G, Gonzalez-Latapi, P, Patzke, C, Schwake, M, Tucci, A, Pittman, A, Simon-Sanchez, J, Carvill, GL, Balint, B, Wiethoff, S, Warner, TT, Papandreou, A, Soo, AKS, Rein, R, Kadastik-Eerme, L, Puusepp, S, Reinson, K, Tomberg, T, Hanagasi, H, Gasser, T, Bhatia, KP, Kurian, MA, Lohmann, E, Õunap, K, Rosenmund, C, Südhof, T, Wood, N, Krainc, D, Acuna, C

Volltext bestellen

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, R, Kvist, J, Andersson, N, Õunap, K, Reinson, K, Wojcik, MH, Bijlsma, EK, Hoffer, MJV, Ryan, MM, Stark, Z, Walsh, M, Cuppen, I, van den Boogaard, M-JH, Bharucha-Goebel, D, Donkervoort, S, Winchester, S, Zori, R, Bönnemann, CG, Maroofian, R, O'Connor, E, Houlden, H, Zhao, F, Carpén, O, White, M, Sreedharan, J, Stewart, M, Ylikallio, E, Tyynismaa, H

Volltext bestellen

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature von Rots, D., Chater-Diehl, E., Dingemans, A.J.M., Goodman, S.J., Siu, M.T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B.B.A. de, Deden, A.C., Leenders, E., Kwint, M., Stumpel, C.T.R.M., Stevens, S.J.C., Vermeulen, J.R., Harssel, J.V.T. van, Bosch, D.G.M., Gassen, K.L.I. van, Binsbergen, E. van, Geus, C.M. de, Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I.M., Yang, H., Zou, F.G., Millan, F., Person, R., Xie, Y.L., Liu, S.X., Ousager, L.B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E.W., Berry, I.R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A.M., Radley, J.A., Phornphutkul, C., Schmidt, B., Wilson, W.G., Ounap, K., Reinson, K., Pajusalu, S., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Miguez, M., Ritter, A., Bhoj, E., Tonne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M.J.M., Cohn, R.D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S.W., Brunner, H.G., Vissers, L.E.L.M., Kleefstra, T., Koolen, D.A., Weksberg, R.

Volltext bestellen

Early feeding practices in infants with phenylketonuria across Europe von Pinto, A, Ahring, K, Allen, H, Almeida, M. F, Garcia-Arenas, D, Atik Altınok, Y, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S. M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Chyż, K, Cochrane, B, Correia, C, Corthouts, K, Daly, A, De Leo, S, Desloovere, A, De Meyer, A, De Theux, A, Didycz, B, Dijsselhof, M. E, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Evans, S, François, L, French, M, Forssell, E, Gingell, C, Gonçalves, C, Gökmen Özel, H, Grimsley, A, Gugelmo, G, Gyüre, E, Hensler, R, Jardim, I, Joost, C, Jouault, C, Jung, A, Koç, N, Kok, I. L, Kozanoğlu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Lilje, R, Ļubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S. M, Pedrón-Giner, C, Pereira, R, Purves, J, Re Dionigi, A, Reinson, K, Robert, M, Robertson, L, Rocha, J. C, Rohde, C, Rosenbaum-Fabian, S, Ruiz, M, Saligova, J, Gutiérrez-Sánchez, A, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Terry, A, Thom, R, Tooke, A, Tuokkola, J, van Dam, E, van den Hurk, T. A.M, van der Ploeg, E. M.C, Vande Kerckhove, K, Van Driessche, M, van Wegberg, A. M.J, Velez García, V, Wildgoose, J, Winkler, T, Zuvadelli, J, MacDonald, A

Volltext bestellen

Early feeding practices in infants with phenylketonuria across Europe von Pinto, A, Ahring, K, Allen, H, Almeida, M. F, Garcia-Arenas, D, Altinok, Y. Atik, Barrio-Carreras, D, Belanger Quintana, A, Bernabei, S. M, Bontemps, C, Boyle, F, Bruni, G, Bueno-Delgado, M, Caine, G, Carvalho, R, Chrobot, A, Cochrane, B, Correia, C, Corthouts, K, Daly, A, Desloovere, A, Meyer, A. de, Didycz, B, Dijsselhof, M. E, Drabik, J, Dunlop, C, Eberle-Pelloth, W, Eftring, K, Ekengren, J, Evans, S, Francois, L, French, M, Forssell, E, Gingell, C, Goncalves, C, Ozel, H. Gokmen, Grimsley, A, Gugelmo, G, Gyure, E, Hensler, R, Jardim, I, Joost, C, Jouault, C, Jung, A, Kanthe, M, Koc, N, Kok, I. L, Kozanoglu, T, Kumru, B, Lang, F, Lang, K, Liegeois, I, Lilje, R, Lubina, O, Manta-Vogli, P, Mayr, D, Meneses, C, Newby, C, Meyer, U, Mexia, S, Nicol, C, Och, U, Olivas, S. M, Pedron-Giner, C, Pereira, R, Purves, J, Dionigi, A. Re, Reinson, K, Robert, M, Robertson, L, Rocha, J. C, Rohde, C, Rosenbaum-Fabian, S, Ruiz, M, Saligova, J, Schlune, A, Schulpis, K, Serrano-Nieto, J, Skarpalezou, A, Skeath, R, Slabbert, A, Straczek, K, Gizewska, M, Terry, A, Thom, R, Tooke, A, Tuokkola, J, Dam, E. van, Hurk, T. A. M. van den, Ploeg, E. M. C. van der, Kerckhove, K. vande, Driessche, M. van, Wegberg, A. M. J. van, Wyk, K. van, Velez Garcia, V, Wildgoose, J, Winkler, T, Zolkowska, J, Zuvadelli, J, MacDonald, A

Volltext bestellen

Noninvasive serum biomarkers for liver fibrosis in NAFLD: current and future von Reinson, Tina, Buchanan, Ryan M, Byrne, Christopher D

Volltext

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging von Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio, Francesca Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M.E. Suzanne, Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein, Melissa P., Skotko, Brian G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos, J. Louw, Van Gassen, Koen L., Koopmans, Marije, Bijlsma, Emilia K., Santen, Gijs W.E., Barge-Schaapveld, Daniela Q.C.M., Ruivenkamp, Claudia A.L., Hoffer, Mariette J.V., Lalani, Seema R., Streff, Haley, Craigen, William J., Graham, Brett H., van den Elzen, Annette P.M., Kamphuis, Daan J., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik, Monica H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank, Tartaglia, Marco

Volltext

Genome Sequencing for Diagnosing Rare Diseases von Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne

Volltext

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening von Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin

Volltext

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

Volltext

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J.V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie Jose H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O'Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

Volltext