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1 Ergebnisse
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A novel DPH5-related diphthamide-deficiency syndrome causin..:
Shankar, Suma P
;
Grimsrud, Kristin
;
Lanoue, Louise
...
qt9kg2s7vk. , 2022
Link:
https://escholarship.org/uc/item/9kg2s7vk
RT Journal T1
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt9kg2s7vk&Exemplar=1&LAN=DE A1 Shankar, Suma P A1 Grimsrud, Kristin A1 Lanoue, Louise A1 Egense, Alena A1 Willis, Brandon A1 Hörberg, Johanna A1 AlAbdi A1 Mayer, Klaus A1 Ütkür, Koray A1 Monaghan, Kristin G A1 Krier, Joel A1 Stoler, Joan A1 Alnemer, Maha A1 Shankar, Prabhu R A1 Schaffrath, Raffael A1 Alkuraya, Fowzan S A1 Brinkmann, Ulrich A1 Eriksson, Leif A A1 Lloyd, Kent A1 Rauen, Katherine A A1 Network, Undiagnosed Diseases A1 Acosta, Maria T A1 Adam, Margaret A1 Adams, David R A1 Alvey, Justin A1 Amendola, Laura A1 Andrews, Ashley A1 Ashley, Euan A A1 Azamian, Mahshid S A1 Bacino, Carlos A A1 Bademci, Guney A1 Balasubramanyam, Ashok A1 Baldridge, Dustin A1 Bale, Jim A1 Bamshad, Michael A1 Barbouth, Deborah A1 Bayrak-Toydemir, Pinar A1 Beck, Anita A1 Beggs, Alan H A1 Behrens, Edward A1 Bejerano, Gill A1 Bennet, Jimmy A1 Berg-Rood, Beverly A1 Bernstein, Jonathan A A1 Berry, Gerard T A1 Bican, Anna A1 Bivona, Stephanie A1 Blue, Elizabeth A1 Bohnsack, John A1 Bonner, Devon A1 Botto, Lorenzo A1 Boyd, Brenna A1 Briere, Lauren C A1 Brokamp, Elly A1 Brown, Gabrielle A1 Burke, Elizabeth A A1 Burrage, Lindsay C A1 Butte, Manish J A1 Byers, Peter A1 Byrd, William E A1 Carey, John A1 Carrasquillo, Olveen A1 Cassini, Thomas A1 Chang, Ta Chen Peter A1 Chanprasert, Sirisak A1 Chao, Hsiao-Tuan A1 Clark, Gary D A1 Coakley, Terra R A1 Cobban, Laurel A A1 Cogan, Joy D A1 Coggins, Matthew A1 Cole, F Sessions A1 Colley, Heather A A1 Cooper, Cynthia M A1 Cope, Heidi A1 Craigen, William J A1 Crouse, Andrew B A1 Cunningham, Michael A1 D'Souza, Precilla A1 Dai, Hongzheng A1 Dasari, Surendra A1 Davis, Joie A1 Dayal, Jyoti G A1 Deardorff, Matthew A1 Dell'Angelica, Esteban C A1 Dipple, Katrina A1 Doherty, Daniel A1 Dorrani, Naghmeh A1 Doss, Argenia L A1 Douine, Emilie D A1 Duncan, Laura A1 Earl, Dawn A1 Eckstein, David J A1 Emrick, Lisa T A1 Eng, Christine M A1 Esteves, Cecilia A1 Falk, Marni A1 Fernandez, Liliana A1 Fieg, Elizabeth L A1 Fisher, Paul G PB eScholarship, University of California YR 2022 K1 Biological Sciences K1 Bioinformatics and Computational Biology K1 Genetics K1 Biotechnology K1 Pediatric K1 Congenital Structural Anomalies K1 Pediatric Research Initiative K1 Human Genome K1 2.1 Biological and endogenous factors K1 Aetiology K1 Adenosine Diphosphate K1 Animals K1 Histidine K1 Humans K1 Methyltransferases K1 Mice K1 Inbred C57BL K1 Neurodevelopmental Disorders K1 Saccharomyces cerevisiae K1 Saccharomyces cerevisiae Proteins K1 Syndrome K1 Nonverbal neurodevelopment delays K1 Novel gene discovery K1 Precision animal modeling K1 Precision genomics K1 Translational genetics K1 Undiagnosed Diseases Network K1 Clinical Sciences K1 Genetics & Heredity JF qt9kg2s7vk LK http://dx.doi.org/https://escholarship.org/uc/item/9kg2s7vk DO https://escholarship.org/uc/item/9kg2s7vk SF ELIB - SuUB Bremen
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