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1 Ergebnisse
1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:
Manole, Andreea
;
Efthymiou, Stephanie
;
O'Connor, Emer
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890/. , 2020
Link:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890/
RT Journal T1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
UL https://suche.suub.uni-bremen.de/peid=base-ftpubmed:oai:pubmedcentral.nih.gov:7413890&Exemplar=1&LAN=DE A1 Manole, Andreea A1 Efthymiou, Stephanie A1 O'Connor, Emer A1 Mendes, Marisa I A1 Jennings, Matthew A1 Maroofian, Reza A1 Davagnanam, Indran A1 Mankad, Kshitij A1 Lopez, Maria Rodriguez A1 Salpietro, Vincenzo A1 Harripaul, Ricardo A1 Badalato, Lauren A1 Walia, Jagdeep A1 Francklyn, Christopher S A1 Athanasiou-Fragkouli, Alkyoni A1 Sullivan, Roisin A1 Desai, Sonal A1 Baranano, Kristin A1 Zafar, Faisal A1 Rana, Nuzhat A1 Ilyas, Muhammed A1 Horga, Alejandro A1 Kara, Majdi A1 Mattioli, Francesca A1 Goldenberg, Alice A1 Griffin, Helen A1 Piton, Amelie A1 Henderson, Lindsay B A1 Kara, Benyekhlef A1 Aslanger, Ayca Dilruba A1 Raaphorst, Joost A1 Pfundt, Rolph A1 Portier, Ruben A1 Shinawi, Marwan A1 Kirby, Amelia A1 Christensen, Katherine M A1 Wang, Lu A1 Rosti, Rasim O A1 Paracha, Sohail A A1 Sarwar, Muhammad T A1 Jenkins, Dagan A1 Ahmed, Jawad A1 Santoni, Federico A A1 Ranza, Emmanuelle A1 Iwaszkiewicz, Justyna A1 Cytrynbaum, Cheryl A1 Weksberg, Rosanna A1 Wentzensen, Ingrid M A1 Guillen Sacoto, Maria J A1 Si, Yue A1 Telegrafi, Aida A1 Andrews, Marisa V A1 Baldridge, Dustin A1 Gabriel, Heinz A1 Mohr, Julia A1 Oehl-Jaschkowitz, Barbara A1 Debard, Sylvain A1 Senger, Bruno A1 Fischer, Frédéric A1 van Ravenwaaij, Conny A1 Fock, Annemarie J.M A1 Stevens, Servi J.C A1 Bähler, Jürg A1 Nasar, Amina A1 Mantovani, John F A1 Manzur, Adnan A1 Sarkozy, Anna A1 Smith, Desirée E.C A1 Salomons, Gajja S A1 Ahmed, Zubair M A1 Riazuddin, Shaikh A1 Riazuddin, Saima A1 Usmani, Muhammad A A1 Seibt, Annette A1 Ansar, Muhammad A1 Antonarakis, Stylianos E A1 Vincent, John B A1 Ayub, Muhammad A1 Grimmel, Mona A1 Jelsig, Anne Marie A1 Hjortshøj, Tina Duelund A1 Karstensen, Helena Gásdal A1 Hummel, Marybeth A1 Haack, Tobias B A1 Jamshidi, Yalda A1 Distelmaier, Felix A1 Horvath, Rita A1 Gleeson, Joseph G A1 Becker, Hubert A1 Mandel, Jean-Louis A1 Koolen, David A A1 Houlden, Henry PB Elsevier YR 2020 K1 Article JF http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890/ LK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890/ DO http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890/ SF ELIB - SuUB Bremen
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