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topic_facet:"Whole-exome sequencing"
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/vufind/Search/Results?lookfor=%22Li%2C+Yanying%22&type=Person&filter%5B%5D=topic_facet%3A%22Whole-exome+sequencing%22
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Search /vufind/Search2/Results?lookfor=%22Li%2C+Yanying%22&type=Person&filter%5B%5D=topic_facet%3A%22Whole-exome+sequencing%22
PubPharm (7)
1
Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome
enthalten in:
Heliyon
| 2024
von
Wei, S.
|
Li, Y.
|
Yang, W.
| +5
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2
Identification and functional analysis of first heterozygous frameshift mutation in the GHRH gene in a Chinese boy with isolated growth hormone deficiency
enthalten in:
Gene
| 2024
von
Wei, S.
|
Zhang, M.
|
Li, Y.
| +6
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3
Molecular diagnosis is an important indicator for response to growth hormone therapy in children with short stature
enthalten in:
Clinica chimica acta; international journal of clinical chemistry
| 2024
von
Zhao, Q.
|
Zhang, M.
|
Li, Y.
| +6
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4
Clinical and genetic evaluation of children with short stature of unknown origin
enthalten in:
BMC medical genomics
| 2023
von
Zhao, Q.
|
Li, Y.
|
Shao, Q.
| +5
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5
Clinical and genetic evaluation of children with short stature of unknown origin
enthalten in:
BMC medical genomics
| 2023
von
Zhao, Q.
|
Li, Y.
|
Shao, Q.
| +5
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6
Clinical and genetic evaluation of children with short stature of unknown origin
enthalten in:
BMC medical genomics
| 2023
von
Zhao, Q.
|
Li, Y.
|
Shao, Q.
| +5
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7
Molecular diagnosis for growth hormone deficiency in Chinese children and adolescents and evaluation of impact of rare genetic variants on treatment efficacy of growth hormone
enthalten in:
Clinica chimica acta; international journal of clinical chemistry
| 2022
von
He, D.
|
Li, Y.
|
Yang, W.
| +5
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1
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Thema: Whole-exome sequencing
Medienart
7
Aufsätze
7
E-Artikel
7
E-Ressourcen
Zeitschriftentitel
3
BMC medical genomics
2
Clinica chimica acta; international journal of ...
1
Gene
1
Heliyon
Thema
Whole-exome sequencing
5
Journal Article
4
Genetic defects
4
Mutation
4
Short stature
3
12629-01-5
3
9002-72-6
3
Clinical phenotypes
3
Growth Hormone
3
Human Growth Hormone
1
9034-39-3
1
ANKRD11 gene
1
Accurate diagnosis
1
Frameshift mutation
1
Frameshift variant
1
Functional assays
1
GH treatment
1
GHRH gene
1
GHRH protein, human
1
Growth Hormone-Releasing Hormone
Alle anzeigen ...
weniger ...
Erscheinungszeitraum
3
2024
3
2023
1
2022
Erscheinungsjahr(e)
Von:
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Sprache
7
Englisch
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