The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Furia, Francesca, Levy, Amanda M., Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos-Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Theunis, Miel, Redon, Sylvia, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, JJ, Tao, AM, Thiffault, I, Van Esch, H, Wentzensen, IM, Bamshad, Michael J., Barakat, TS, Møller, RS, Gomez-Puertas, P, Chung, WK, Gardella, E, Tümer, Z, Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara
- Creator: Furia, Francesca , Levy, Amanda M. , Dean, Sarah Joy , Egense, Alena , Goel, Himanshu , Guenzel, Adam J. , Hüffmeier, Ulrike , Legius, Eric , Mancini, Grazia M. S. , Marcos-Alcalde, Iñigo , Niclass, Tanguy , Planes, Marc , Theunis, Miel , Redon, Sylvia , Ros-Pardo, D , Rouault, K , Schot, R , Schuhmann, S , Shen, JJ , Tao, AM , Thiffault, I , Van Esch, H , Wentzensen, IM , Bamshad, Michael J. , Barakat, TS , Møller, RS , Gomez-Puertas, P , Chung, WK , Gardella, E , Tümer, Z , Bartos, Meghan N. , Bijlsma, Emilia K. , Brancati, Francesco , Cejudo, Lucile , Chong, Jessica X. , De Luca, Chiara
- Resource Type: journal article
- Date: 2024
- Creator: Furia, Francesca , Levy, Amanda M. , Dean, Sarah Joy , Egense, Alena , Goel, Himanshu , Guenzel, Adam J. , Hüffmeier, Ulrike , Legius, Eric , Mancini, Grazia M. S. , Marcos-Alcalde, Iñigo , Niclass, Tanguy , Planes, Marc , Theunis, Miel , Redon, Sylvia , Ros-Pardo, D , Rouault, K , Schot, R , Schuhmann, S , Shen, JJ , Tao, AM , Thiffault, I , Van Esch, H , Wentzensen, IM , Bamshad, Michael J. , Barakat, TS , Møller, RS , Gomez-Puertas, P , Chung, WK , Gardella, E , Tümer, Z , Bartos, Meghan N. , Bijlsma, Emilia K. , Brancati, Francesco , Cejudo, Lucile , Chong, Jessica X. , De Luca, Chiara
- Resource Type: journal article
- Date: 2024
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
- Rossi, Alessandra, Blok, Lot Snijders, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Neuser, Sonja, Murch, Oliver, Irving, R, Lynch, SA, Mehta, SG, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, KM, Westphall, IT, Klöckner, Chiara, Hughes, SS, Smithson, S, Evans, J, Dudding-Byth, Tracy, Simon, M, van Binsbergen, E, Herkert, JC, Beunders, G, Oppermann, H, Bakal, M, Platzer, Konrad, Møller, RS, Rubboli, G, Bayat, A, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello
- Creator: Rossi, Alessandra , Blok, Lot Snijders , Alfieri, Paolo , Srivastava, Siddharth , Coulter, David , Smith, Lacey , Vinorum, Kristin , Cappuccio, Gerarda , Brunetti-Pierri, Nicola , Torun, Deniz , Arslan, Mutluay , Lauridsen, Mathilde F. , Neuser, Sonja , Murch, Oliver , Irving, R , Lynch, SA , Mehta, SG , Carmichael, J , Zonneveld-Huijssoon, E , de Vries, B , Kleefstra, T , Johannesen, KM , Westphall, IT , Klöckner, Chiara , Hughes, SS , Smithson, S , Evans, J , Dudding-Byth, Tracy , Simon, M , van Binsbergen, E , Herkert, JC , Beunders, G , Oppermann, H , Bakal, M , Platzer, Konrad , Møller, RS , Rubboli, G , Bayat, A , Faivre, Laurence Olivier , Weigand, Heike , Dentici, Maria L. , Tartaglia, Marco , Niceta, Marcello
- Resource Type: journal article
- Date: 2023
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