المؤلفون: Ellen van Beusekom, Andrea K. Petersen, Alireza Sedaghat, Amir Sherafat, Henry Houlden, Mohammad Yahya Vahidi Mehrjardi, Laila Selim, Nihal M. Al Menabawy, Stephanie Efthymiou, Ender Karaca, Mohammadreza Dehghani, Alper Gezdirici, Neda Mazaheri, Reza Azizi Malamiri, Vincenzo Salpietro, Valentina Stanley, Leslie Durham, Christopher A. Walsh, Caroline Dias, Lieke L.M. Schaeken, James R. Lupski, Reza Maroofian, Hamid Galehdari, Selina Banu, Jaya Punetha, Edward Yang, Davut Pehlivan, Zeynep Coban-Akdemir, Elena Seiradake, Jennifer E. Posey, Maryam Najafi, Gholamreza Shariati, Joseph G. Gleeson, Céline Zheng, Jamileh Rezazadeh Varaghchi, Hans van Bokhoven, Daniel L. Polla, Jennifer N. Partlow, Jennifer Keller-Ramey, Tadahiro Mitani, Abolfazl Rad, Valeria V. Orlova, Shalini N. Jhangiani

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 105, 5, pp. 1048-1056
American Journal of Human Genetics, 105, 1048-1056

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Neurite, Adolescent, In silico, Mutation, Missense, autism, NTNG2, Biology, GPI-Linked Proteins, Whole Exome Sequencing, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Neurodevelopmental disorder, Protein structure, Report, Exome Sequencing, Netrin, Genetics, medicine, Missense mutation, Humans, Exome, Global developmental delay, Child, Preschool, developmental delay, intellectual disability, neurodevelopmental disorder, Child, Preschool, Female, Homozygote, Intellectual Disability, Netrins, Neurodevelopmental Disorders, Pedigree, Genetics (clinical), Exome sequencing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], medicine.disease, 030104 developmental biology, Mutation, Missense, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84f035a1329a6d86df6250a6489b3b9Test
https://doi.org/10.1016/j.ajhg.2019.09.025Test

المؤلفون: Sarah Azimi, Leila Nouri Vahid, Krystyna Keleman, Pooneh Nikuei, Tara Akhtarkhavari, Thomas F. Wienker, Beate Albrecht, Hossein Khodaei, Mohammad Reza Ebrahimpour, Mohammad Javad Soltani Banavandi, Marzieh Mohseni, Vanessa Suckow, Aria Jankhah, Milad Bastami, Behzad Davarnia, Vera M. Kalscheuer, Farzaneh Larti, Saeide Akbari, Kimia Kahrizi, Jamileh Rezazadeh Varaghchi, Bettina Lipkowitz, Sanaz Arzhangi, Morteza Oladnabi, Monika Cohen, Sabine Otto, Zohreh Fattahi, Luciana Musante, Payman Jamali, Maryam Beheshtian, Masoumeh Hosseini, Maryam Taghdiri, Wei Chen, Seyedeh Sedigheh Abedini, Bernd Timmermann, Hans-Hilger Ropers, Andreas Tzschach, Gholamreza Bahrami, Birgit Zirn, Hossein Najmabadi, Dagmar Wieczorek, Ingrid Bader, Gabriele Gillessen-Kaesbach, Cornelia Oppitz, Elaheh Papari, Hao Hu, Ralf Herwig, Fatemeh Pourfatemi, Jutta Gärtner, Faezeh Mojahedi, Hossein Dehghani, Sepideh Mehvari, Seyed Hassan Tonekaboni

المصدر: Molecular Psychiatry

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Medizin, Genes, Recessive, Consanguinity, Iran, Biology, DNA sequencing, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Exome, Family, Protein Interaction Maps, Molecular Biology, Gene, De novo mutations, Affected offspring, Whole genome sequencing, Genetics, Whole Genome Sequencing, Homozygote, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, Psychiatry and Mental health, 030104 developmental biology, Mutation, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda29e76af95f3244bac3fef885f1ad6Test
https://hdl.handle.net/21.11116/0000-0000-638A-5Test