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5 research outputs found
Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study
Author
A Bøyum
Ari Zimran
+28Â more
Avi Valevski
Aviva Fattal-Valevski
BE Shapiro
BR Brooks
C1 Leport
Deborah Elstein
E Osher
Etty Osher
GH1 Maegawa
HW Kresse
ILO Buxton
JT Clarke
Leah Peleg
Liora Sagie
LM Weiss
LM Weiss
M Tinetti
MB Tropak
ME Tinetti
Nadav Sagiv
Naftali Stern
Nataly Urshanski
O1 Neudorfer
P1 Leinekugel
R Gravel
Ruth Navon
SL Hauser
Tally Lerman-Sagie
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Get PDF
Crossref
Periventricular Brain Heterotopias in a Child With Adrenocortical Insufficiency, Achalasia, Alacrima, and Neurologic Abnormalities (Allgrove Syndrome)
Author
Aicardi J.
Avinoam Rachmel
+9Â more
Avinoam Shuper
Avraham Zeharia
Esposti AD
Liora Kornreich
Marc Mimouni
Roubergue A.
Schaefer GB
Stratakis CA
Tally Lerman-Sagie
Publication venue
'SAGE Publications'
Publication date
Field of study
No full text
Crossref
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
Author
Abicht
Abicht
+40Â more
Andrew G. Engel
Aviva Mimouni-Bloch
Ayelet Halevy
Engel
Engel
Engel
Engel
Goldhammer
Ilana Chervinsky
Kinali
Liewluck
Liora Sagie
Lorenzoni
Mahjneh
Mahjneh
Mahjneh
Malcolm Rabie
Matlik
Menachem Sadeh
Mihaylova
Muhannad Daana
MĂĽller
Naama Orenstein
Ohno
Ohno
Palace
Richard
RodrĂguez Cruz
Ronen Spiegel
Rony Cohen
Rosner
Sadeh
Schara
Shapira
Sharon Aharoni
Simon Edvardson
Talia Dor-Wollman
Yehuda Shapira
Yoram Nevo
Zohar Argov
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
Author
Alfons Macaya
Ami Haviv
+39Â more
Bamshad
Ben-Ari
Christian Kubisch
Dagli
Doron Gothelf
Dvir Dahary
Eli Heyman
Frankel
Guntram Borck
Göhlich-Ratmann
Harald Bode
Holger Thiele
Holmes
Iannetti
Irina Lagovsky
Kivitie-Kallio
Lerman-Sagie
Lina Basel-Vanagaite
Liora Kornreich
Marta Vila-Pueyo
Mefford
Metsada Pasmanik-Chor
Miquel Raspall-Chaure
Monika Weisz Hubshman
Mordechai Shohat
Naseebullah Kakar
Noh
Paul
Pavone
Peter NĂĽrnberg
Pola Smirin-Yosef
Rho
Rosenfeld
Saitsu
Seelow
Tavyev Asher
Toutzaris
Tova Hershkovitz
Zupanc
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis
Author
A Auton
A Boukhris
+44Â more
A D’Amore
AE Harding
AE Harding
Aviva Fattal-Valevski
B Ben-Zeev
C Depienne
C Lu
C Schindler
C Tesson
CJ McDermott
D Burguez
DS Lynch
E Kara
F Fröhlich
F Sedel
FF da Graça
FJ Perez-Victoria
FJ PĂ©rez-Victoria
G Novarino
GA Van der Auwera
J Chang
J Hirst
J Wei
JC Dodge
JM Moser
JS Bonifacino
Karen Geva
Liora Sagie
M Feinstein
Moran Hausman-Kedem
MR Knowles
N Vasan
O Agamy
P Denora
P McMonagle
PVS Souza
R SchĂĽle
RE Appleton
RP Bruyn
S Richards
Shay Ben-Shachar
Shay Menascu
T Lo Giudice
Z Ren
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref