Ben-Zeev, B.
78  results:
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1

Clinical, neuroimaging, and molecular spectrum of TECPR2‐as..:

Neuser, S ; Brechmann, B ; Heimer, G...
https://discovery.ucl.ac.uk/id/eprint/10127587/7/Houlden_humu.24206_VoR.pdf.  , 2021
 
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Clinical, neuroimaging, and molecular spectrum of TECPR2‐as..:

Neuser, S ; Brechmann, B ; Heimer, G...
https://openaccess.sgul.ac.uk/id/eprint/113188/6/humu.24206.pdf.  , 2021
 
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Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, J ; de Boer, E ; Voisin, N...
den Hoed , J , de Boer , E , Voisin , N , Dingemans , A J M , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S M , Banka , S , Bena , F S , Ben-Zeev , B , Bonagura , V R , Bruel , A L , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistiene , L , Coon , H , Delot , E C , Demurger , F , Denomme-Pichon , A S , Depienne , C , Donnai , D , Dyment , D A , Elpeleg , O , Faivre , L , Gilissen , C , Granger , L , Haber , B , Hachiya , Y , Abedi , Y H , Hanebeck , J , Hehir-Kwa , J Y , Horist , B , Itai , T , Jackson , A , Jewell , R , Jones , K L , Joss , S , Kashii , H , Kato , M , Kattentidt-Mouravieva , A A , Kok , F , Kotzaeridou , U , Krishnamurthy , V , Kucinskas , V , Kuechler , A , Lavillaureix , A , Liu , P F , DDD Study & Fisher , S E 2021 , ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ' , American Journal of Human Genetics , vol. 108 , no. 2 , pp. 346-356 . https:/....  , 2021
 
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Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, J ; de Boer, E ; Voisin, N...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.01.007.  , 2021
 
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Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, Joery ; de Boer, Elke ; Voisin, N...
den Hoed , J , de Boer , E , Voisin , N , Dingemans , A , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S , Banka , S , Bena , F , Ben-Zeev , B , Bonagura , V , Bruel , A , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistienė , L , Coon , H , study , T DDD , Délot , E C , Démurger , F , Denommé-Pichon , A-S , Depienne , C , Donnai , D , Dyment , D A , Elpeleg , O , Faivre , L , Gilissen , C , Granger , L , Haber , B , Hachiya , Y , Abedi , Y H , Hanebeck , J , Hehir-Kwa , J Y , Horist , B , Itai , T , Jackson , A , Jewell , R , Jones , K L , Joss , S , Kashii , H , Kato , M , Kattentidt-Mouravieva , A A , Kok , F , Kotzaeridou , U , Krishnamurthy , V , Kučinskas , V , Kuechler , A , Lavillaureix , A , Liu , P , Manwaring , L , Matsumoto , N , Mazel , B , McWalter , K , Meiner , V , Mikati , M A , Miyatake , S , Mizuguchi , T , Moey , L H , Mohammed , S , Mor-Shaked , H , Mountford , H , Newbury-Ecob , R , Odent , S , Orec , L ,....  , 2020
 
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Biallelic mutations in DNAJC12 cause hyperphenylalaninemia,..:

Anikster, Y ; Haack, T.B ; Vilboux, T...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.01.002.  , 2017
 
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Creatine transporter deficiency: Novel mutations and functi..:

Ardon, O ; Procter, M ; Mao, R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932609/.  , 2016
 
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MKS3/TMEM67 mutations are a major cause of COACH syndrome, ..:

Brancati, F ; Iannicelli, M ; Travaglini, L...
info:eu-repo/semantics/altIdentifier/wos/WOS:000279979200011.  , 2009
 
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Progressive cerebellocerebral atrophy: a new syndrome with ..:

Ben-Zeev, B ; Hoffman, C ; Lev, D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735539.  , 2003
 
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A common ancestral haplotype in carrier chromosomes from di..:

Shinar, Y ; Ben-Zeev, B ; Brand, N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734951.  , 2002
 
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