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1 . Academic Journal
Direct and Indirect Predictors of Burden in Arab-Bedouin and Jewish-Israeli Mothers Caring for a Child with Epilepsy
저자
by
Idit Joss
;
Yaacov G. Bachner
;
Talia Shorer
;
Zamir Shorer
;
Norm O’Rourke
.
소스
Healthcare, Vol 11, Iss 19, p 2662 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
PSMC1
variant causes a novel neurological syndrome
저자
by
Sarit Aharoni
;
Regina Proskorovski‐Ohayon
;
Ramesh Kumar Krishnan
;
Yuval Yogev
;
Ohad Wormser
, et al.
소스
Clinical Genetics
. 102:324-332
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
저자
by
Yuval Yogev
;
Zamir Shorer
;
Arie Koifman
;
Ohad Wormser
;
Max Drabkin
, et al.
소스
Proceedings of the National Academy of Sciences
. 120
Full Text (PNAS)
Open Access (OpenAIRE)
Scopus
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7 .
Correlates of Caregiving Burden among Bedouin-Muslim Mothers of Children Diagnosed with Epilepsy
저자
by
Offer E. Edelstein
;
Talia Shorer
;
Zamir Shorer
;
Yaacov G. Bachner
.
소스
International Journal of Environmental Research and Public Health; Volume 19; Issue 18; Pages: 11595
Open Access (OpenAIRE)
Scopus
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6 .
Phenotypic variability and mutation hotspot in
COX15
‐related Leigh syndrome
저자
by
Libe Gradstein
;
Daniel Halperin
;
Max Drabkin
;
Hagit Flusser
;
Ohad S. Birk
, et al.
소스
American Journal of Medical Genetics Part A
. 182:1506-1512
Web of Science
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7 .
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
저자
by
Libe Gradstein
;
Max Drabkin
;
Barak Rotblat
;
Ilan Shelef
;
Uri Abdu
, et al.
소스
Journal of Medical Genetics
. 56:139-148
Full Text (BMJ Journals)
Web of Science
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7 .
Temporal lobe surgery for intractable epilepsy in children: What to do with the hippocampus?
저자
by
Rima Bar-Yosef
;
Mony Benifla
;
Zamir Shorer
;
Odeya Bennet-Back
;
Iris Noyman
, et al.
소스
Seizure
. 52:81-88
Full Text (Clinical Key)
Open Access (OpenAIRE)
Full Text (ScienceDirect O/A)
Web of Science
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7 .
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
저자
by
Arie Koifman
;
Eugene Cohen
;
Ohad Wormser
;
Hagit Flusser
;
Analia Michaelovsky
, et al.
소스
European Journal of Human Genetics
. 25:966-972
Open Access (OpenAIRE)
Web of Science
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7 .
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay
저자
by
Libe Gradstein
;
Dale Frank
;
Zamir Shorer
;
Yonatan Perez
;
Yair Sadaka
, et al.
소스
Human Molecular Genetics
. 24:6485-6491
Full Text (OUP)
Full Text (OUP Near Archive)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Author response for 'Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease'
저자
by
Zamir Shorer
;
Ohad S. Birk
;
Hagit Flusser
;
Ilan Shelef
;
Rotem Kadir
, et al.
소스
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