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1 Ergebnisse
1
A HS6ST2 gene variant associated with X-linked intellectual..:
Paganini, Leda
;
Hadi, Loubna A
;
CHETTA, MASSIMILIANO
...
info:eu-repo/semantics/altIdentifier/pmid/30471091. , 2018
Link:
http://hdl.handle.net/2434/609435
RT Journal T1
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins
UL https://suche.suub.uni-bremen.de/peid=base-ftunivmilanoair:oai:air.unimi.it:2434_609435&Exemplar=1&LAN=DE A1 Paganini, Leda A1 Hadi, Loubna A A1 CHETTA, MASSIMILIANO A1 Rovina, Davide A1 Fontana, Laura A1 Colapietro, Patrizia A1 Bonaparte, Eleonora A1 Pezzani, Lidia A1 Marchisio, Paola A1 Tabano, Silvia M A1 Costanza, Jole A1 Sirchia, Silvia M A1 Riboni, Laura A1 Milani, Donatella A1 Miozzo, Monica PB Wiley Blackwell Publishing YR 2018 K1 HS6ST2 K1 intellectual disability (ID) K1 syndromic myopia K1 whole exome sequencing (WES) K1 Settore MED/03 - Genetica Medica K1 Settore BIO/10 - Biochimica K1 Settore MED/38 - Pediatria Generale e Specialistica JF info:eu-repo/semantics/altIdentifier/pmid/30471091 LK http://hdl.handle.net/2434/609435 DO http://hdl.handle.net/2434/609435 SF ELIB - SuUB Bremen
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