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1 Ergebnisse
1
Genotype–phenotype correlations in individuals with pathoge..:
Jordan, Valerie K
;
Fregeau, Brieana
;
Ge, Xiaoyan
...
qt57z6f57h. , 2018
Link:
https://escholarship.org/uc/item/57z6f57h
RT Journal T1
Genotype–phenotype correlations in individuals with pathogenic RERE variants
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt57z6f57h&Exemplar=1&LAN=DE A1 Jordan, Valerie K A1 Fregeau, Brieana A1 Ge, Xiaoyan A1 Giordano, Jessica A1 Wapner, Ronald J A1 Balci, Tugce B A1 Carter, Melissa T A1 Bernat, John A A1 Moccia, Amanda N A1 Srivastava, Anshika A1 Martin, Donna M A1 Bielas, Stephanie L A1 Pappas, John A1 Svoboda, Melissa D A1 Rio, Marlène A1 Boddaert, Nathalie A1 Cantagrel, Vincent A1 Lewis, Andrea M A1 Scaglia, Fernando A1 Network, Undiagnosed Diseases A1 Kohler, Jennefer N A1 Bernstein, Jonathan A A1 Dries, Annika M A1 Rosenfeld, Jill A A1 DeFilippo, Colette A1 Thorson, Willa A1 Yang, Yaping A1 Sherr, Elliott H A1 Bi, Weimin A1 Scott, Daryl A PB eScholarship, University of California YR 2018 K1 Congenital Structural Anomalies K1 Genetics K1 Genetic Testing K1 Rare Diseases K1 Pediatric K1 Aetiology K1 2.1 Biological and endogenous factors K1 Adolescent K1 Carrier Proteins K1 Child K1 Preschool K1 Fatal Outcome K1 Female K1 Genetic Association Studies K1 Humans K1 Infant K1 Male K1 Mutation K1 Young Adult K1 1p36 deletion syndrome K1 CHARGE syndrome K1 CHD7 K1 genotype-phenotype correlations K1 NEDBEH K1 RERE K1 Undiagnosed Diseases Network K1 Clinical Sciences K1 Genetics & Heredity JF qt57z6f57h LK http://dx.doi.org/https://escholarship.org/uc/item/57z6f57h DO https://escholarship.org/uc/item/57z6f57h SF ELIB - SuUB Bremen
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