المؤلفون: Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L, Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S, Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G Bhanuprakash, Hejtmancik, J Fielding, Georgiou, George, Riazuddin, S Amer, Ayyagari, Radha

المصدر: Human Molecular Genetics. 25(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Eye Disease and Disorders of Vision, Neurodegenerative, Neurosciences, Biotechnology, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Eye, Adult, Animals, Asparaginase, Autoantigens, Disease Models, Animal, Exome, Genetic Linkage, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Retina, Retinal Cone Photoreceptor Cells, Retinal Degeneration, Visual Acuity, Zebrafish, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9g51777rTest

المؤلفون: Manole, Andreea, Efthymiou, Stephanie, O'Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean Louis, Koolen, David A., Houlden, Henry

المصدر: Manole , A , Efthymiou , S , O'Connor , E , Mendes , M I , Jennings , M , Maroofian , R , Davagnanam , I , Mankad , K , Lopez , M R , Salpietro , V , Harripaul , R , Badalato , L , Walia , J , Francklyn , C S , Athanasiou-Fragkouli , A , Sullivan , R , Desai , S , Baranano , K , Zafar , F , Rana , N , Ilyas , M , Horga , A , Kara , M , Mattioli , F , ....

العلاقة: https://research.vumc.nl/en/publications/c3a406b1-895d-4557-92a7-100a86fd9ac9Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.016Test
https://research.vumc.nl/en/publications/c3a406b1-895d-4557-92a7-100a86fd9ac9Test
http://www.scopus.com/inward/record.url?scp=85088934445&partnerID=8YFLogxKTest

المؤلفون: Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L., Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S., Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G. Bhanuprakash, Hejtmancik, J. Fielding, Georgiou, George, Riazuddin, S. Amer, Ayyagari, Radha

المصدر: Human Molecular Genetics ; page ddw113 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddw113Test
https://academic.oup.com/hmg/article/25/12/2483/2525738/A-missense-mutation-in-ASRGL1-is-involved-inTest

المؤلفون: Christensen, Katherine M., Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frederic, van Ravenwaaij, Conny, Fock, Annemarie J. M., Stevens, Servi J. C., Bahler, Jurg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desiree E. C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshoj, Tina Duelund, Karstensen, Helena Gasdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry, Manole, Andreea, Efthymiou, Stephanie, O'Connor, Emer, Mendes, Marisa, Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayça Dilruba, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Sacoto, Maria J. Guillen, Si, Yue, Telegrafi, Aida, Andrews, Marisa, Baldridge, Dustin, Gabriel, Heinz

المساهمون: University Of London ,, 2640297

مصطلحات موضوعية: Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Genetics, Molecular Biology, Genetics (clinical), Life Sciences, Health Sciences, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik

العلاقة: AMERICAN JOURNAL OF HUMAN GENETICS; Manole A., Efthymiou S., O'Connor E., Mendes M., Jennings M., Maroofian R., Davagnanam I., Mankad K., Lopez M. R. , Salpietro V., et al., "De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects", AMERICAN JOURNAL OF HUMAN GENETICS, cilt.107, sa.2, ss.311-324, 2020; vv_1032021; av_5d16532b-9b4a-477b-84f6-f91f14c14402; http://hdl.handle.net/20.500.12627/170876Test; https://avesis.istanbul.edu.tr/api/publication/5d16532b-9b4a-477b-84f6-f91f14c14402/fileTest; https://doi.org/10.1016/j.ajhg.2020.06.016Test; 107; 311; 324

الإتاحة: https://doi.org/20.500.12627/170876Test
https://doi.org/10.1016/j.ajhg.2020.06.016Test
https://hdl.handle.net/20.500.12627/170876Test
https://avesis.istanbul.edu.tr/api/publication/5d16532b-9b4a-477b-84f6-f91f14c14402/fileTest

المؤلفون: Biswas, Pooja, Murthy Chavali, Venkata Ramana, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L., Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S., Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Takeshi Iwata, Riazuddin, Shaikh, Reddy, G. Bhanuprakash, Hejtmancik, J. Fielding, Georgiou, George, Riazuddin, S. Amer, Ayyagari, Radha

المصدر: Human Molecular Genetics; 6/15/2016, Vol. 25 Issue 12, p2483-2497, 15p