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Human Genetics
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Volume 138, January 2019, Issue 1, Pages 1-107
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1. Ways of improving precise knock-in by genome-editing technologies
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Tác giả
Svetlana A. Smirnikhina, Arina A. Anuchina, Alexander V. Lavrov.
2. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
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Tác giả
Ikumi Umeki, Tetsuya Niihori, Taiki Abe, Shin-ichiro Kanno.
3. Genetic association and differential expression of PITX2 with acute appendicitis
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Tác giả
Ekaterina Orlova, Andrew Yeh, Min Shi, Brian Firek.
4. The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans
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Tác giả
Dayana A. Delgado, Chenan Zhang, Kevin Gleason, Kathryn Demanelis.
5. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
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Tác giả
Jeroen J. Smits, Jaap Oostrik, Andy J. Beynon, Sarina G. Kant.
6. Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions
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Tác giả
Anna Summerer, Eleonora Schäfer, Victor-Felix Mautner, Ludwine Messiaen.
7. Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype–phenotype correlations
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Tác giả
Qiqi Wang, Da Li, Baozhu Cai, Qing Chen, Caihua Li, Yanhua Wu, Li Jin.
8. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome
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Tác giả
Anelisa Gollo Dantas, Marcos Leite Santoro, Natalia Nunes.
9. A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension
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Tác giả
Anas M. Alazami, Sateesh Maddirevula, Mohamed Zain Seidahmed.
