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1 . Academic Journal
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
저자
by
Daniel Backenroth
;
Gheona Altarescu
;
Fouad Zahdeh
;
Tzvia Mann
;
Omer Murik
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
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7 . Academic Journal
Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing
저자
by
Albina Nowak
;
Omer Murik
;
Tzvia Mann
;
David A. Zeevi
;
Gheona Altarescu
.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
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7 . Academic Journal
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
저자
by
Dominique P. Germain
;
Sergey Moiseev
;
Fernando Suárez‐Obando
;
Faisal Al Ismaili
;
Huda Al Khawaja
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Open Access (Wiley)
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7 . Academic Journal
Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells
저자
by
Yaara Cohen-Hadad
;
Gheona Altarescu
;
Talia Eldar-Geva
;
Ephrat Levi-Lahad
;
Ming Zhang
, et al.
소스
Stem Cell Reports, Vol 7, Iss 5, Pp 927-940 (2016)
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7 . Academic Journal
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells
저자
by
Shira Yanovsky-Dagan
;
Michal Avitzour
;
Gheona Altarescu
;
Paul Renbaum
;
Talia Eldar-Geva
, et al.
소스
Stem Cell Reports, Vol 5, Iss 2, Pp 221-231 (2015)
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7 . Academic Journal
FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells
저자
by
Michal Avitzour
;
Hagar Mor-Shaked
;
Shira Yanovsky-Dagan
;
Shira Aharoni
;
Gheona Altarescu
, et al.
소스
Stem Cell Reports, Vol 3, Iss 5, Pp 699-706 (2014)
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7 . Academic Journal
Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis
저자
by
Alexander Ioscovich
;
Talia Eldar-Geva
;
Marina Weitman
;
Gheona Altarescu
;
Alina Rivilis
, et al.
소스
Journal of Human Reproductive Sciences, Vol 6, Iss 4, Pp 263-266 (2013)
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7 . Academic Journal
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
저자
by
Silvina Epsztejn-Litman
;
Yaara Cohen-Hadad
;
Shira Aharoni
;
Gheona Altarescu
;
Paul Renbaum
, et al.
소스
PLoS ONE, Vol 10, Iss 10, p e0138893 (2015)
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7 . Academic Journal
Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience
저자
by
Irina Tukan
;
Irith Hadas-Halpern
;
Gheona Altarescu
;
Ayala Abrahamov
;
Deborah Elstein
, et al.
소스
Advances in Hematology, Vol 2013 (2013)
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7 .
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic
SNV
in a lung‐specific enhancer in trans to the frameshifting
TBX4
variant
저자
by
Esra Yıldız Bölükbaşı
;
Justyna A. Karolak
;
Przemyslaw Szafranski
;
Tomasz Gambin
;
Omer Murik
, et al.
소스
American Journal of Medical Genetics Part A
. 188:1420-1425
Web of Science
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