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1 Ergebnisse
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De Novo Mutations of RERE Cause a Genetic Syndrome with Fea..:
Fregeau, Brieana
;
Kim, Bum Jun
;
Hernández-García, Andrés
...
qt0rd5k1p2. , 2016
Link:
https://escholarship.org/uc/item/0rd5k1p2
RT Journal T1
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt0rd5k1p2&Exemplar=1&LAN=DE A1 Fregeau, Brieana A1 Kim, Bum Jun A1 Hernández-García, Andrés A1 Jordan, Valerie K A1 Cho, Megan T A1 Schnur, Rhonda E A1 Monaghan, Kristin G A1 Juusola, Jane A1 Rosenfeld, Jill A A1 Bhoj, Elizabeth A1 Zackai, Elaine H A1 Sacharow, Stephanie A1 Barañano, Kristin A1 Bosch, Daniëlle GM A1 de Vries, Bert BA A1 Lindstrom, Kristin A1 Schroeder, Audrey A1 James, Philip A1 Kulch, Peggy A1 Lalani, Seema R A1 van Haelst, Mieke M A1 van Gassen, Koen LI A1 van Binsbergen, Ellen A1 Barkovich, A James A1 Scott, Daryl A A1 Sherr, Elliott H PB eScholarship, University of California YR 2016 K1 Biological Sciences K1 Biomedical and Clinical Sciences K1 Genetics K1 Neurosciences K1 Brain Disorders K1 Autism K1 Pediatric K1 Mental Health K1 Intellectual and Developmental Disabilities (IDD) K1 Congenital Structural Anomalies K1 Aetiology K1 2.1 Biological and endogenous factors K1 Congenital K1 Abnormalities K1 Multiple K1 Animals K1 Carrier Proteins K1 Child K1 Preschool K1 Chromosome Deletion K1 Chromosome Disorders K1 Chromosomes K1 Human K1 Pair 1 K1 Developmental Disabilities K1 Female K1 Haploinsufficiency K1 Humans K1 Infant K1 Male K1 Mice K1 Mutation K1 Phenotype K1 Prognosis K1 Medical and Health Sciences K1 Genetics & Heredity K1 Health sciences JF qt0rd5k1p2 LK http://dx.doi.org/https://escholarship.org/uc/item/0rd5k1p2 DO https://escholarship.org/uc/item/0rd5k1p2 SF ELIB - SuUB Bremen
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