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1 . Academic Journal
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
저자
by
Hadar, Noam
;
Dolgin, Vadim
;
Oustinov, Katya
;
Yogev, Yuval
;
Poleg, Tomer
, et al.
소스
Human Genetics
. 143(5):695-701
Web of Science
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7 . Academic Journal
Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice
저자
by
Hadar, Noam
;
Porgador, Omri
;
Cohen, Idan
;
Levi, Hilla
;
Dolgin, Vadim
, et al.
소스
European Journal of Human Genetics
. 32(5):550-557
Web of Science
Scopus
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7 . Academic Journal
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
저자
by
Poleg, Tomer
;
Eskin-Schwartz, Marina
;
Proskorovski-Ohayon, Regina
;
Aminov, Ilana
;
Dolgin, Vadim
, et al.
소스
Journal of Cardiovascular Translational Research
. 16(6):1325-1331
Web of Science
Scopus
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7 . Academic Journal
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome
저자
by
Hadar, Noam
;
Schreiber, Ruth
;
Eskin-Schwartz, Marina
;
Kristal, Eyal
;
Shubinsky, George
, et al.
소스
European Journal of Human Genetics
. 31(10):1101-1107
Web of Science
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7 . Academic Journal
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
저자
by
Wormser, Ohad
;
Perez, Yonatan
;
Dolgin, Vadim
;
Kamali, Bahman
;
Tangeman, Jared A.
, et al.
소스
npj Genomic Medicine
. 8(1)
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7 . Academic Journal
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
저자
by
Rips, Jonathan
;
Halstuk, Orli
;
Fuchs, Adina
;
Lang, Ziv
;
Sido, Tal
, et al.
소스
In
Genetics in Medicine
April 2024 26(4)
Full Text (ScienceDirect)
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7 . Academic Journal
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
저자
by
Ohad Wormser
;
Yonatan Perez
;
Vadim Dolgin
;
Bahman Kamali
;
Jared A. Tangeman
, et al.
소스
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Open Access (DOAJ)
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7 . Academic Journal
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
저자
by
Hadar, Noam
;
Narkis, Ginat
;
Amar, Shirly
;
Varnavsky, Marina
;
Palti, Glenda Calniquer
, et al.
소스
European Journal of Human Genetics
. 31(7):738-743
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7 . Academic Journal
Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families
저자
by
Anat Bahat Dinur
;
Ortal Buchbut
;
Libe Gradstein
;
Baker Elsana
;
Ofek Freund
, et al.
소스
Rambam Maimonides Medical Journal, Vol 15, Iss 1, p e0005 (2024)
Open Access (DOAJ)
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7 . Academic Journal
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
저자
by
Aasem Abu Shtaya
;
Inbal Kedar
;
Lily Bazak
;
Lina Basel-Salmon
;
Sarit Farage Barhom
, et al.
소스
Genes, Vol 15, Iss 3, p 355 (2024)
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