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topic_facet:"Mutation"
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/vufind/Search/Results?lookfor=%22Asian+Continental+Ancestry+Group%22&type=Subject&filter%5B%5D=topic_facet%3A%22Mutation%22
/vufind/Search/Results?lookfor=%22Asian+Continental+Ancestry+Group%22&type=Subject&filter%5B%5D=topic_facet%3A%22Mutation%22
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PubPharm (14)
1
COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population
enthalten in:
Journal of the neurological sciences
| 2021
von
Porto, K.
|
Hirano, M.
|
Mitsui, J.
| +7
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2
A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk
enthalten in:
International journal of pharmaceutical medicine
| 2015
von
Wang, N.
|
Ding, H.
|
Liu, C.
| +8
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3
PMP22‐Related neuropathies and other clinical manifestations in Chinese han patients with charcot‐marie‐tooth disease type 1
enthalten in:
Muscle & nerve
| 2015
von
Zhan, Y.
|
Zi, X.
|
Hu, Z.
| +9
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4
Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree
enthalten in:
Clinical endocrinology
| 2015
von
Klammt, J.
|
Shen, S.
|
Kiess, W.
| +5
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5
Genome-wide transcriptional analyses of Chinese patients reveal cell migration is attenuated in IDH1-mutant glioblastomas
enthalten in:
Cancer letters
| 2015
von
Hu, H.
|
Wang, Z.
|
Liu, Y.
| +8
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6
Founder Haplotype Analysis of Fanconi Anemia in the Korean Population Finds Common Ancestral Haplotypes for a FANCG Variant
enthalten in:
Annals of human genetics
| 2015
von
Park, J.
|
Kim, M.
|
Jang, W.
| +8
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7
Identification and Molecular Characterization of HNF1B Gene Mutations in Indian Diabetic Patients with Renal Abnormalities
enthalten in:
Annals of human genetics
| 2015
von
Kanthimathi, S.
|
Balamurugan, K.
|
Mohan, V.
| +3
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8
Novel A219P Mutation of Hydroxymethylbilane Synthase Identified in a Chinese Woman with Acute Intermittent Porphyria and Syndrome of Inappropriate Antidiuretic Hormone
enthalten in:
Annals of human genetics
| 2015
von
Li, Y.
|
Qu, H.
|
Wang, H.
| +2
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9
A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease
enthalten in:
Clinical genetics
| 2015
von
Kurashige, M.
|
Hanaoka, K.
|
Imamura, M.
| +6
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10
SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort
enthalten in:
Clinical genetics
| 2015
von
Chen, Y.
|
Cao, Y.
|
Li, H.
| +10
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Thema: Mutation
Medienart
14
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13
Gedruckte Aufsätze
1
E-Artikel
1
E-Ressourcen
Zeitschriftentitel
3
Annals of human genetics
2
Clinical genetics
1
American journal of human genetics
1
Cancer letters
1
Clinical endocrinology <Oxford>
1
Documenta ophthalmologica
1
International journal of pharmaceutical medicine
1
Journal of the neurological sciences
1
Muscle & nerve
1
The journal of allergy and clinical immunology
1
Transfusion
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Thema
Mutation
13
Asian Continental Ancestry Group - genetics
3
Medical research
2
DNA sequencing
2
Exons - genetics
2
Genetic aspects
2
Genomes
2
Nucleotide sequencing
2
Patients
2
Population
2
RNA, Messenger - genetics
2
Rodents
1
ADPKD
1
Acute intermittent porphyria
1
Age
1
Alkyl and Aryl Transferases
1
Analysis
1
Anemia
1
Angiogenesis
1
Antigens, CD36 - deficiency
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Erscheinungszeitraum
1
2020-
13
2010-2019
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14
Englisch
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