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1 . Academic Journal
Editorial: Personalized precision medicine in autism spectrum related disorders, volume II
저자
by
Lidia V. Gabis
;
Andreea Nissenkorn
;
Josephine Barbaro
.
소스
Frontiers in Neurology, Vol 15 (2024)
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5 . Academic Journal
Characterization of a de novo GABBR2 variant linked to autism spectrum disorder
저자
by
Noa Bielopolski
;
Michal Stawarski
;
Ilana Roitman
;
Karen Fridman
;
Shane Wald-Altman
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 16 (2023)
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7 . Academic Journal
Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom
저자
by
Shani Karklinsky
;
Shir Kugler
;
Omer Bar-Yosef
;
Andreea Nissenkorn
;
Anat Grossman-Jonish
, et al.
소스
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
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7 . Academic Journal
Felbamate for pediatric epilepsy—should we keep on using it as the last resort?
저자
by
Shira Rabinowicz
;
Tal Schreiber
;
Gali Heimer
;
Omer Bar-Yosef
;
Andreea Nissenkorn
, et al.
소스
Frontiers in Neurology, Vol 13 (2022)
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7 . Academic Journal
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
저자
by
Ben Pode-Shakked
;
Ortal Barel
;
Amihood Singer
;
Miriam Regev
;
Hana Poran
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
저자
by
Yuval E. Landau
;
Gali Heimer
;
Ortal Barel
;
Nechama Shalva
;
Dina Marek-Yagel
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100631- (2020)
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7 . Academic Journal
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.
저자
by
Andreea Nissenkorn
;
Yael Almog
;
Inbar Adler
;
Mary Safrin
;
Marina Brusel
, et al.
소스
PLoS ONE, Vol 14, Iss 2, p e0211901 (2019)
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7 . Academic Journal
Analysis of the Phenotypes in the Rett Networked Database
저자
by
Elisa Frullanti
;
Filomena T. Papa
;
Elisa Grillo
;
Angus Clarke
;
Bruria Ben-Zeev
, et al.
소스
International Journal of Genomics, Vol 2019 (2019)
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7 . Academic Journal
ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia
저자
by
Jayesh M. Bhatt
;
Andrew Bush
;
Marjo van Gerven
;
Andreea Nissenkorn
;
Michael Renke
, et al.
소스
European Respiratory Review, Vol 24, Iss 138, Pp 565-581 (2015)
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7 .
Perampanel as Precision Therapy in Rare Genetic Epilepsies
저자
by
Andreea Nissenkorn
;
Gerhard Kluger
;
Susanne Schubert‐Bast
;
Allan Bayat
;
Marya Bobylova
, et al.
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Epilepsia
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