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1 . Academic Journal
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue
저자
by
Kurolap, Alina
;
Barel, Dalit
;
Shaul Lotan, Nava
;
Wexler, Isaiah
;
Chai Gadot, Chofit
, et al.
소스
In
Molecular Genetics and Metabolism
November 2023 140(3)
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7 . Academic Journal
Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates.
저자
by
Hamiel, Uri
;
Eshel Fuhrer, Audelia
;
Landau, Nitsan
;
Reches, Adi
;
Ponger, Penina
, et al.
소스
Telemedicine & e-Health
. Apr2024, Vol. 30 Issue 4, p1013-1019. 7p.
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7 . Academic Journal
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
저자
by
Barel, Dalit
;
Marom, Daphna
;
Ponger, Penina
;
Kurolap, Alina
;
Bar-Shira, Anat
, et al.
소스
Journal of Neurology
. :1-9
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7 . Academic Journal
257: The added value of whole exome sequencing (WES) in fetuses with structural abnormalities
저자
by
Hiersch, Liran
;
Reches, Adi
;
Simchoni, Sharon
;
Barel, Dalit
;
Greenberg, Rotem
, et al.
소스
In
American Journal of Obstetrics and Gynecology
January 2017 216(1) Supplement:S159-S160
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7 . Academic Journal
Whole-exome sequencing in fetuses with central nervous system abnormalities
저자
by
Reches, Adi
;
Hiersch, Liran
;
Simchoni, Sharon
;
Barel, Dalit
;
Greenberg, Rotem
, et al.
소스
Journal of Perinatology
. 38(10):1301-1308
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7 . Academic Journal
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome.
저자
by
Beysen, Diane
;
De Jaegere, Sarah
;
Amor, David
;
Bouchard, Philippe
;
Christin-Maitre, Sophie
, et al.
소스
Human Mutation; Nov2008, Vol. 29 Issue 11, pE205-E219, 15p
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7 . Academic Journal
Clinical evaluation of isolated nonvisualized fetal gallbladder.
저자
by
Ochshorn, Yifat
;
Rosner, Guy
;
Barel, Dalit
;
Bronshtein, Moshe
;
Muller, Francoise
, et al.
소스
Prenatal Diagnosis; Aug2007, Vol. 27 Issue 8, p699-703, 5p
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7 . Academic Journal
A novel germ line p53 mutation in intron 6 in diverse childhood malignancies.
저자
by
Avigad, Smadar
;
Barel, Dalit
;
Blau, Orit
;
Malka, Ayelet
;
Zoldan, Meira
, et al.
소스
Oncogene
. 4/3/97, Vol. 14 Issue 13, p1541. 5p.
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7 . Periodical
Prenatal Diagnosis in Li-Fraumeni Syndrome
저자
by
Avigad, Smadar
;
Peleg, Dan
;
Barel, Dalit
;
Benyaminy, Hadar
;
Ben-Baruch, Noa
, et al.
소스
Journal of Pediatric Hematology / Oncology; September 2004, Vol. 26 Issue: 9 p541-545, 5p
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7 . Academic Journal
The added value of whole exome sequencing (WES) in fetuses with structural abnormalities
저자
by
Hiersch, Liran
;
Reches, Adi
;
Simchoni, Sharon
;
Barel, Dalit
;
Greenberg, Rotem
, et al.
소스
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
; JAN 2017, 216 1, pS159-pS160, 2p. Supplement: S
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