Arama Sonuçları - Zeynep Coban‐Akdemir
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TRIM24 suppresses development of spontaneous hepatic lipid accumulation and hepatocellular carcinoma in mice
Baskı/Yayın Bilgisi 2014Tam Metin ErişimArtigo -
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Exome variant discrepancies due to reference-genome differences
Baskı/Yayın Bilgisi 2021Tam Metin Erişim Tam Metin ErişimArtigo -
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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
Baskı/Yayın Bilgisi 2015Tam Metin ErişimArtigo -
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Baskı/Yayın Bilgisi 2020Tam Metin ErişimArtigo -
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Phenotypic expansion illuminates multilocus pathogenic variation
Baskı/Yayın Bilgisi 2018Tam Metin Erişim Tam Metin ErişimArtigo -
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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Baskı/Yayın Bilgisi 2018Tam Metin Erişim Tam Metin ErişimArtigo -
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Variant‐level matching for diagnosis and discovery: Challenges and opportunities
Baskı/Yayın Bilgisi 2022Tam Metin Erişim Tam Metin ErişimArtigo -
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Mechanisms for Complex Chromosomal Insertions
Baskı/Yayın Bilgisi 2016Tam Metin Erişim Tam Metin ErişimArtigo -
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Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome)
Baskı/Yayın Bilgisi 2019Tam Metin ErişimArtigo -
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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis
Baskı/Yayın Bilgisi 2017Tam Metin ErişimArtigo -
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
Baskı/Yayın Bilgisi 2018Tam Metin ErişimArtigo -
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Myc and SAGA rewire an alternative splicing network during early somatic cell reprogramming
Baskı/Yayın Bilgisi 2015Tam Metin Erişim Tam Metin ErişimArtigo -
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis
Baskı/Yayın Bilgisi 2017Tam Metin ErişimArtigo