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1 Ergebnisse
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Presynaptic congenital myasthenic syndrome with a homozygou..:
Maselli, Ricardo A
;
Arredondo, Juan
;
Vázquez, Jessica
...
qt3f58t2b8. , 2017
Link:
https://escholarship.org/uc/item/3f58t2b8
RT Journal T1
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt3f58t2b8&Exemplar=1&LAN=DE A1 Maselli, Ricardo A A1 Arredondo, Juan A1 Vázquez, Jessica A1 Chong, Jessica X A1 Genomics, University of Washington Center for Mendelian A1 Bamshad, Michael J A1 Nickerson, Deborah A A1 Lara, Marian A1 Ng, Fiona A1 Lo, Victoria L A1 Pytel, Peter A1 McDonald, Craig M PB eScholarship, University of California YR 2017 K1 Biomedical and Clinical Sciences K1 Ophthalmology and Optometry K1 Clinical Research K1 Genetics K1 Orphan Drug K1 Brain Disorders K1 Neurosciences K1 Intellectual and Developmental Disabilities (IDD) K1 Rare Diseases K1 Pediatric K1 Aetiology K1 2.1 Biological and endogenous factors K1 Adult K1 Face K1 Female K1 Homozygote K1 Humans K1 Laminin K1 Myasthenic Syndromes K1 Congenital K1 Myopia K1 Neuromuscular Junction Diseases K1 Tics K1 Young Adult K1 congenital myasthenic syndrome K1 LAMA5 K1 laminin alpha 5 K1 presynaptic K1 University of Washington Center for Mendelian Genomics K1 laminin α5 K1 Clinical Sciences JF qt3f58t2b8 LK http://dx.doi.org/https://escholarship.org/uc/item/3f58t2b8 DO https://escholarship.org/uc/item/3f58t2b8 SF ELIB - SuUB Bremen
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