Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
Get full text
Journal Article
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis
Hashemian, Somayyeh, Eshraghi, Peyman, Dilaver, Nafi, Galehdari, Hamid, Shalbafan, Bita, Vakili, Rahim, Ghaemi, Nosrat, Ahangari, Najmeh, Rezazadeh Varaghchi, Jamileh, Zeighami, Jawaher, Sedaghat, Alireza, Aminzadeh, Majid, Hamid, Mohammad, Saberi, Alihossein, Ashtari, Fereshteh, Ghayoor Karimiani, Ehsan, Shariati, Gholamreza
Published in Iranian journal of child neurology (01.03.2019)
Published in Iranian journal of child neurology (01.03.2019)
Get full text
Journal Article
Genetics of intellectual disability in consanguineous families
Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Herwig, Ralf, Hosseini, Masoumeh, Oppitz, Cornelia, Abedini, Seyedeh Sedigheh, Suckow, Vanessa, Larti, Farzaneh, Beheshtian, Maryam, Lipkowitz, Bettina, Akhtarkhavari, Tara, Mehvari, Sepideh, Otto, Sabine, Mohseni, Marzieh, Arzhangi, Sanaz, Jamali, Payman, Mojahedi, Faezeh, Taghdiri, Maryam, Papari, Elaheh, Soltani Banavandi, Mohammad Javad, Akbari, Saeide, Tonekaboni, Seyed Hassan, Dehghani, Hossein, Ebrahimpour, Mohammad Reza, Bader, Ingrid, Davarnia, Behzad, Cohen, Monika, Khodaei, Hossein, Albrecht, Beate, Azimi, Sarah, Zirn, Birgit, Bastami, Milad, Wieczorek, Dagmar, Bahrami, Gholamreza, Keleman, Krystyna, Vahid, Leila Nouri, Tzschach, Andreas, Gärtner, Jutta, Gillessen-Kaesbach, Gabriele, Varaghchi, Jamileh Rezazadeh, Timmermann, Bernd, Pourfatemi, Fatemeh, Jankhah, Aria, Chen, Wei, Nikuei, Pooneh, Kalscheuer, Vera M, Oladnabi, Morteza, Wienker, Thomas F, Ropers, Hans-Hilger, Najmabadi, Hossein
Published in Molecular psychiatry (01.07.2019)
Published in Molecular psychiatry (01.07.2019)
Get full text
Journal Article
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Millan, Francisca, Duman, Özgür, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Senderek, Jan
Published in Brain (London, England : 1878) (04.09.2021)
Published in Brain (London, England : 1878) (04.09.2021)
Get full text
Journal Article
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis
Hashemian, Somayyeh, Eshraghi, Peyman, Dilaver, Nafi, Galehdari, Hamid, Shalbafan, Bita, Vakili, Rahim, Ghaemi, Nosrat, Ahangari, Najmeh, Rezazadeh Varaghchi, Jamileh, Zeighami, Jawaher, Sedaghat, Alireza, Aminzadeh, Majid, Hamid, Mohammad, Saberi, Alihossein, Ashtari, Fereshteh, Ghayoor Karimiani, Ehsan, Shariati, Gholamreza
Published in Iranian journal of child neurology (01.01.2019)
Get full text
Published in Iranian journal of child neurology (01.01.2019)
Report