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/vufind/Search/Results?lookfor=%22Yanovsky-Dagan%2C+Shira%22&type=Person&sort=year
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PubPharm (19)
1
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus
enthalten in:
Nature communications
| 2024
von
Handal, T.
|
Juster, S.
|
Abu Diab, M.
| +15
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2
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Rips, J.
|
Halstuk, O.
|
Fuchs, A.
| +22
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3
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
enthalten in:
Life science alliance
| 2024
von
Koch, I.
|
Slovik, M.
|
Zhang, Y.
| +26
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4
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Cahn, A.
|
Mor-Shaked, H.
|
Rosenberg-Fogler, H.
| +6
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5
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
enthalten in:
Journal of medical genetics
| 2023
von
Maroofian, R.
|
Efthymiou, S.
|
Suri, M.
| +11
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6
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay
enthalten in:
Clinical genetics
| 2023
von
Mo, A.
|
Paz-Ebstein, E.
|
Yanovsky-Dagan, S.
| +7
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7
Talin1 dysfunction is genetically linked to systemic capillary leak syndrome
enthalten in:
bioRxiv.org
| 2022
von
Elefant, N.
|
Nikolopoulou, P.
|
Vassiliki Papadaki, V.
| +14
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8
DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Yanovsky-Dagan, S.
|
Cohen, E.
|
Megalli, P.
| +5
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9
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
enthalten in:
Brain : a journal of neurology
| 2022
von
Ezer, S.
|
Daana, M.
|
Park, J.
| +10
CommentIn: Brain. 2022 Mar 08;:. - PMID 35259258
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10
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs
enthalten in:
HGG advances
| 2022
von
Yanovsky-Dagan, S.
|
Frumkin, A.
|
Lupski, J.
| +1
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Clinical genetics
2
European journal of human genetics : EJHG
2
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2
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1
American Journal of Medical Genetics Part C: Se...
1
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1
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1
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1
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1
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1
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1
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1
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Thema
14
Journal Article
7
Research Support, Non-U.S. Gov't
4
exome sequencing
3
Case Reports
2
DMPK protein, human
2
EC 2.7.11.1
2
Myotonin-Protein Kinase
2
Research Support, N.I.H., Extramural
1
139135-51-6
1
5' Untranslated Regions
1
570
1
6YHG2VE3IX
1
AMOTL1
1
AMOTL1 protein, human
1
ATAD3A
1
Angiomotins
1
Biology
1
CAPN15
1
CAPN15 protein, human
1
CRISPR/Cas9
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Erscheinungszeitraum
15
2020-
4
2010-2019
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17
Englisch
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