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Elucidating the clinical spectrum and molecular basis of HY..:

Fasham, James ; Lin, Siying ; Ghosh, Promita...
Fasham , J , Lin , S , Ghosh , P , Radio , F C , Farrow , E G , Thiffault , I , Kussman , J , Zhou , D , Hemming , R , Zahka , K , Chioza , B A , Rawlins , L E , Wenger , O K , Gunning , A C , Pizzi , S , Onesimo , R , Zampino , G , Barker , E , Osawa , N , Rodriguez , M C , Neuhann , T M , Zackai , E H , Keena , B , Capasso , J , Levin , A V , Bhoj , E , Li , D , Hakonarson , H , Wentzensen , I M , Jackson , A , Chandler , K E , Coban-Akdemir , Z H , Posey , J E , Banka , S , Lupski , J R , Sheppard , S E , Tartaglia , M , Triggs-Raine , B , Crosby , A H & Baple , E L 2021 , ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ' , Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014. , 2021

Link: https://research.manchester.ac.uk/en/publications/fafa..

RT Journal
T1 <Title>Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftumanchesterpub:oai:pure.atira.dk:publications_fafa0b0c-61dd-4a34-8e1c-42ef53849e3f&Exemplar=1&LAN=DE
				
A1 Fasham, James
A1 Lin, Siying
A1 Ghosh, Promita
A1 Radio, Francesca Clementina
A1 Farrow, Emily G
A1 Thiffault, Isabelle
A1 Kussman, Jennifer
A1 Zhou, Dihong
A1 Hemming, Rick
A1 Zahka, Kenneth
A1 Chioza, Barry A
A1 Rawlins, Lettie E
A1 Wenger, Olivia K
A1 Gunning, Adam C
A1 Pizzi, Simone
A1 Onesimo, Roberta
A1 Zampino, Giuseppe
A1 Barker, Emily
A1 Osawa, Natasha
A1 Rodriguez, Megan Christine
A1 Neuhann, Teresa M
A1 Zackai, Elaine H
A1 Keena, Beth
A1 Capasso, Jenina
A1 Levin, Alex V
A1 Bhoj, Elizabeth
A1 Li, Dong
A1 Hakonarson, Hakon
A1 Wentzensen, Ingrid M
A1 Jackson, Adam
A1 Chandler, Kate E
A1 Coban-Akdemir, Zeynep H
A1 Posey, Jennifer E
A1 Banka, Siddharth
A1 Lupski, James R
A1 Sheppard, Sarah E
A1 Tartaglia, Marco
A1 Triggs-Raine, Barbara
A1 Crosby, Andrew H
A1 Baple, Emma L
YR 2021
K1 Congenital heart disease
K1 Facial dysmorphism
K1 Hyaluronidase
K1 Myopia
K1 Orofacial clefting
JF Fasham , J , Lin , S , Ghosh , P , Radio , F C , Farrow , E G , Thiffault , I , Kussman , J , Zhou , D , Hemming , R , Zahka , K , Chioza , B A , Rawlins , L E , Wenger , O K , Gunning , A C , Pizzi , S , Onesimo , R , Zampino , G , Barker , E , Osawa , N , Rodriguez , M C , Neuhann , T M , Zackai , E H , Keena , B , Capasso , J , Levin , A V , Bhoj , E , Li , D , Hakonarson , H , Wentzensen , I M , Jackson , A , Chandler , K E , Coban-Akdemir , Z H , Posey , J E , Banka , S , Lupski , J R , Sheppard , S E , Tartaglia , M , Triggs-Raine , B , Crosby , A H & Baple , E L 2021 , ' Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency ' , Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1016/j.gim.2021.10.014
LK http://dx.doi.org/https://research.manchester.ac.uk/en/publications/fafa0b0c-61dd-4a34-8e1c-42ef53849e3f
DO https://research.manchester.ac.uk/en/publications/fafa0b0c-61dd-4a34-8e1c-42ef53849e3f
SF ELIB - SuUB Bremen

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