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1 . 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)
Open Access (DOAJ)
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7 . Academic Journal
Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study
저자
by
Karny Shouchane-Blum
;
Iftach Yassur
;
Amir Sternfeld
;
Miriam Regev
;
Orly Gal-Or
, et al.
소스
Case Reports in Ophthalmology, Vol 12, Iss 2, Pp 396-401 (2021)
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7 . Academic Journal
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
저자
by
Lior Greenbaum
;
Ben Pode-Shakked
;
Shlomit Eisenberg-Barzilai
;
Michal Dicastro-Keidar
;
Anat Bar-Ziv
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 .
Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study
저자
by
Iftach Yassur
;
Rita Ehrlich
;
Miriam Regev
;
Karny Shouchane-Blum
;
Miriam Ehrenberg
, et al.
소스
Case Reports in Ophthalmology, Vol 12, Iss 2, Pp 396-401 (2021)
Case Reports in Ophthalmology
Open Access (OpenAIRE)
Scopus
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7 .
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
저자
by
Odelia Chorin
;
Amihood Singer
;
Aviva Eliyahu
;
Mordechai Shohat
;
Dan Dominissini
, et al.
소스
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
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7 .
Phenotype variability in Hajdu-Cheney syndrome
저자
by
David Goldstein
;
Annick Raas-Rothschild
;
Ben Pode-Shakked
;
Jeffrey M. Jacobson
;
Miriam Regev
, et al.
소스
European Journal of Medical Genetics
. 62:35-38
Full Text (Clinical Key)
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7 .
Involvement of Rho GAP GRAF1 in maintenance of epithelial phenotype
저자
by
Helena Sabanay
;
Zvi Kam
;
Elena Kartvelishvily
;
Miriam Regev
;
Alexander D. Bershadsky
.
소스
Cell Adhesion & Migration
Open Access (OpenAIRE)
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7 .
Congenital myopathy is caused by mutation of HACD1
저자
by
Miriam Regev
;
Emad Muhammad
;
Orit Reish
;
Yusuke Ohno
;
Todd E. Scheetz
, et al.
소스
Human Molecular Genetics
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7 .
A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
저자
by
Tod Fullston
;
Jozef Gecz
;
Eli Heyman
;
Miriam Regev
;
Orit Reish
.
소스
American Journal of Medical Genetics Part A
. :1655-1660
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7 .
The clinical spectrum of fetal Niemann-Pick type C
저자
by
M. Nadjari
;
Orit Reish
;
Karen Meir
;
Vivi Sury
;
Miriam Regev
, et al.
소스
American Journal of Medical Genetics Part A
. :446-450
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