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1 Ergebnisse
1
Bi-allelic TMEM94 Truncating Variants Are Associated with N..:
Stephen, Joshi
;
Maddirevula, Sateesh
;
Nampoothiri, Sheela
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279/. , 2018
Link:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279/
RT Journal T1
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
UL https://suche.suub.uni-bremen.de/peid=base-ftpubmed:oai:pubmedcentral.nih.gov:6288279&Exemplar=1&LAN=DE A1 Stephen, Joshi A1 Maddirevula, Sateesh A1 Nampoothiri, Sheela A1 Burke, John D A1 Herzog, Matthew A1 Shukla, Anju A1 Steindl, Katharina A1 Eskin, Ascia A1 Patil, Siddaramappa J A1 Joset, Pascal A1 Lee, Hane A1 Garrett, Lisa. J A1 Yokoyama, Tadafumi A1 Balanda, Nicholas A1 Bodine, Steven P A1 Tolman, Nathanial J A1 Zerfas, Patricia M A1 Zheng, Allison A1 Ramantani, Georgia A1 Girisha, Katta M A1 Rivas, Cecilia A1 Suresh, Pujar V A1 Elkahloun, Abdel A1 Alsaif, Hessa S A1 Wakil, Salma M A1 Mahmoud, Laila A1 Ali, Rehab A1 Prochazkova, Michaela A1 Kulkarni, Ashok B A1 Ben-Omran, Tawfeg A1 Colak, Dilek A1 Morris, H. Douglas A1 Rauch, Anita A1 Martinez-Agosto, Julian A A1 Nelson, Stanley F A1 Alkuraya, Fowzan S A1 Gahl, William A A1 Malicdan, May Christine V PB Elsevier YR 2018 K1 Article JF http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279/ LK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279/ DO http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279/ SF ELIB - SuUB Bremen
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