Marfa, Mercedes Pineda
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4

Consensus clinical management guidelines for Niemann-Pick d..:

Geberhiwot, Tarekegn ; Moro, Alessandro ; Dardis, Andrea...
http://www.repository.uhblibrary.co.uk/id/eprint/1979/1/Consensus%20clinical%20management%20guidelines%20for%20Niemann-Pick%20disease%20type%20C.pdf.  , 2018
 
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6

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J L , Catsman-Berrevoets , C , Pinto , P S , Tirupathi , S , Strømme , P , de Grauw , T , Gieruszczak-Bialek , D , Krägeloh-Mann , I , Mierzewska , H , Philippi , H , Rankin , J , Atik , T , Banwell , B , Benko , W S , Blaschek , A , Bley , A , Boltshauser , E , Bratkovic , D , Brozova , K , Cimas , I , Clough , C , Corenblum , B , Dinopoulos , A , Dolan , G , Faletra , F , Fernandez , R , Fletcher , J , Garcia Garcia , M E , Gasparini , P , Gburek-Augustat , J , Gonzalez Moron , D , Hamati , A , Harting , I , Hertzberg , C , Hill , A , Hobson , G M , Innes , A M , Kauffman , M , Kirwin , S M , Kluger , G , Kolditz , P , Kotzaer....  , 2021
 
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7

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

PELLETIER, Felixe ; PERRIER, Stefanie ; CAYAMI, Ferdy K...
info:eu-repo/semantics/altIdentifier/doi/10.1210/clinem/dgaa700.  , 2021
 
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8

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
https://pure.au.dk/portal/en/publications/ffa054e5-9d1b-4c47-9e78-a12bfdef6b36.  , 2021
 
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10

Endocrine and Growth Abnormalities in 4H Leukodystrophy Cau..:

Pelletier, Félixe ; Perrier, Stefanie ; Cayami, Ferdy K...
Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J L , Catsman-Berrevoets , C , Pinto , P S , Tirupathi , S , Strømme , P , de Grauw , T , Gieruszczak-Bialek , D , Krägeloh-Mann , I , Mierzewska , H , Philippi , H , Rankin , J , Atik , T , Banwell , B , Benko , W S , Blaschek , A , Bley , A , Boltshauser , E , Bratkovic , D , Brozova , K , Cimas , I , Clough , C , Corenblum , B , Dinopoulos , A , Dolan , G , Faletra , F , Fernandez , R , Fletcher , J , Garcia Garcia , M E , Gasparini , P , Gburek-Augustat , J , Gonzalez Moron , D , Hamati , A , Harting , I , Hertzberg , C , Hill , A , Hobson , G M , Innes , A M , Kauffman , M , Kirwin , S M , Kluger , G , Kolditz , P , Kotzaer....  , 2021
 
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12

Inhibition of G-protein signalling in cardiac dysfunction o..:

De Nittis P ; Efthymiou S ; Sarre A...
info:eu-repo/semantics/altIdentifier/wos/WOS:000729894000004.  , 2021
 
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13

Early-infantile onset epilepsy and developmental delay caus..:

Neuray C ; Maroofian R ; Scala M...
info:eu-repo/semantics/altIdentifier/pmid/32705143.  , 2020
 
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