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/vufind/Search/Results?lookfor=%22Novel+variant%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22Novel+variant%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
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PubPharm (577)
1
Novel thiopurine S-methyltransferase (TPMT) variant identified in Malay individuals
enthalten in:
Clinical chemistry and laboratory medicine
| 2024
von
Lee, C.
|
Huan, P.
|
Chai, C.
| +5
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2
Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population : A review
enthalten in:
International journal of laboratory hematology
| 2024
von
Thaker, P.
|
Mahajan, N.
|
Mukherjee, M.
| +1
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3
A novel variant in NSUN2 causes intellectual disability in a Chinese family
enthalten in:
BMC medical genomics
| 2024
von
Yang, Q.
|
Zhang, Q.
|
Qin, Z.
| +2
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4
A novel variant in NSUN2 causes intellectual disability in a Chinese family
enthalten in:
BMC medical genomics
| 2024
von
Yang, Q.
|
Zhang, Q.
|
Qin, Z.
| +2
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5
Isolated dentinogenesis imperfecta : Novel DSPP variants and insights on genetic counselling
enthalten in:
Clinical oral investigations
| 2024
von
Hassib, N.
|
Mehrez, M.
|
Mostafa, M.
| +1
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6
Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling
enthalten in:
Clinical oral investigations
| 2024
von
Hassib, N.
|
Mehrez, M.
|
Mostafa, M.
| +1
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7
CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis
enthalten in:
Heliyon
| 2024
von
Martínez-Hernández, A.
|
Mendoza-Caamal, E.
|
Mendiola-Vidal, N.
| +13
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8
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort
enthalten in:
Biochemical genetics
| 2024
von
Moghimi, P.
|
Hashemi-Gorji, F.
|
Jamshidi, S.
| +7
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9
Loop PDE of viral capsid protein is involved in immune escape of the emerging novel variant infectious bursal disease virus
enthalten in:
Veterinary microbiology
| 2024
von
Wang, G.
|
Jiang, N.
|
Yu, H.
| +16
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10
Novel variant infectious bursal disease virus diminishes FAdV-4 vaccination and enhances pathogenicity of FAdV-4
enthalten in:
Veterinary microbiology
| 2024
von
Liang, Z.
|
Leng, M.
|
Lian, J.
| +5
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