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1 . Academic Journal
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews
저자
by
Weisz-Hubshman, M.
;
Meirson, H.
;
Michaelson-Cohen, R.
;
Beeri, R.
;
Tzur, S.
, et al.
소스
In
European Journal of Paediatric Neurology
May 2019 23(3):418-426
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7 . Academic Journal
The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews
저자
by
Mei-Zahav, M.
;
Stafler, P.
;
Senderowitz, H.
;
Bentur, L.
;
Livnat, G.
, et al.
소스
In
Journal of Cystic Fibrosis
September 2018 17(5):e41-e45
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7 . Academic Journal
Detection of copy number variations in epilepsy using exome data
저자
by
Tsuchida, N.
;
Nakashima, M.
;
Kato, M.
;
Heyman, E.
;
Inui, T.
, et al.
소스
Clinical Genetics
. Mar 01, 2018 93(3):577-587
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7 . Academic Journal
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
저자
by
Orenstein, N.
;
Weiss, K.
;
Oprescu, S.N.
;
Shapira, R.
;
Kidron, D.
, et al.
소스
Clinical Genetics
. Jun2017, Vol. 91 Issue 6, p913-917. 6p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram.
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7 . Academic Journal
Is the Bishop-score significant in predicting the success of labor induction in multiparous women?
저자
by
Navve, D.
;
Orenstein, N.
;
Ribak, R.
;
Daykan, Y.
;
Shechter-Maor, G.
, et al.
소스
JOURNAL OF PERINATOLOGY
; MAY 2017, 37 5, p480-p483, 4p.
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7 . Academic Journal
P.133B - The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophy.
저자
by
Aharoni, S.
;
Nevo, Y.
;
Orenstein, N.
;
Basel-Vanagaite, L.
;
Mussaffi, H.
, et al.
소스
Neuromuscular Disorders
. Oct2017 Supplement 2, Vol. 27, pS137-S137. 1p.
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7 . Academic Journal
Phenotype-based search using free online databases is ineffective in diagnostics of mendelian disorders
저자
by
Fellner, A.
;
Ruhrman-Shahar, N.
;
Orenstein, N.
;
Lidzbarsky, G.
;
Hagari, O.
, et al.
소스
EUROPEAN JOURNAL OF HUMAN GENETICS
; DEC 2020, 28 SUPPL 1, p663-p663, 1p. Supplement: 1
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7 . Academic Journal
The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophy
저자
by
Aharoni, S.
;
Nevo, Y.
;
Orenstein, N.
;
Basel-Vanagaite, L.
;
Mussaffi, H.
, et al.
소스
NEUROMUSCULAR DISORDERS
; OCT 2017, 27 pS137-pS137, 1p. Supplement: 2
Full Text (ScienceDirect)
Full Text (Clinical Key)
Scopus
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