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/vufind/Search/Results?lookfor=%22Yamoto%2C+Kaori%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Yamoto%2C+Kaori%22&type=Person&sort=year
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PubPharm (29)
1
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis
enthalten in:
Congenital anomalies
| 2024
von
Yamoto, K.
|
Kato, F.
|
Yamoto, M.
| +4
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2
Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR
enthalten in:
Pediatric blood & cancer
| 2023
von
Komatsu, K.
|
Sakaguchi, K.
|
Shimizu, D.
| +5
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3
PORCN-related microphthalmia with limb anomalies : Case report and literature review
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Fukahori, K.
|
Yamoto, K.
|
Saitsu, H.
| +2
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4
PORCN‐related microphthalmia with limb anomalies : Case report and literature review
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Fukahori, K.
|
Yamoto, K.
|
Saitsu, H.
| +2
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5
Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR
enthalten in:
Pediatric Blood & Cancer
| 2023
von
Komatsu, K.
|
Sakaguchi, K.
|
Shimizu, D.
| +5
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6
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Yamoto, K.
|
Okada, S.
|
Kato, F.
| +4
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7
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2022
von
Yamoto, K.
|
Okada, S.
|
Kato, F.
| +4
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8
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
enthalten in:
Clinical genetics
| 2021
von
Hiraide, T.
|
Yamoto, K.
|
Masunaga, Y.
| +13
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9
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn : Identification of RPS6KA3 disruption by whole genome sequencing
enthalten in:
Clinical case reports
| 2020
von
Yamoto, K.
|
Saitsu, H.
|
Fujisawa, Y.
| +5
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10
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features
enthalten in:
European journal of medical genetics
| 2020
von
Fukuda, T.
|
Hiraide, T.
|
Yamoto, K.
| +5
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Medienart
29
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American journal of medical genetics. Part A
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Journal of human genetics
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Pediatric surgery international
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European journal of human genetics : EJHG
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Thema
12
Journal Article
9
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6
Research Support, Non-U.S. Gov't
4
Letter
3
Children
3
Extrahepatic portal vein obstruction
3
Hirschsprung’s disease
3
Inferior vena cava reconstruction
3
Long-segment type
3
Meso-Rex bypass
3
Total type
3
Transanal decompression
3
Umbilical vein
3
Vascular graft
2
67763-97-7
2
Acyltransferases
2
EC 2.3.-
2
EC 2.3.1.-
2
IGF2
2
IGF2 protein, human
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Erscheinungszeitraum
13
2020-
16
2010-2019
Erscheinungsjahr(e)
Von:
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Sprache
25
Englisch
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