Genetic Diseases, X-Linked research, articles, guidelines & medical evidence database search.
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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 19 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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Research
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.
Casanova Jean-Laurent, Su Helen C
Cell Vol 181(6)
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Date 11 Jun 2020
Research
Mobile interspersed repeats are major structural variants in the human genome.
Huang Cheng Ran Lisa, Schneider Anna M, Lu Yunqi, Niranjan Tejasvi, Shen Peilin ...
Cell Vol 141(7)
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Date 25 Jun 2010
Research
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Aneichyk Tatsiana, Hendriks William T, Yadav Rachita, Shin David, Gao Dadi ...
Cell Vol 172(5)
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Date 22 Feb 2018
Research
Trinucleotide repeats that expand in human disease form hairpin structures in vitro.
Gacy A M, Goellner G, Juranić N, Macura S, McMurray C T
Cell Vol 81(4)
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Date 19 May 1995
Research
Disease-specific induced pluripotent stem cells.
Park In-Hyun, Arora Natasha, Huo Hongguang, Maherali Nimet, Ahfeldt Tim ...
Cell Vol 134(5)
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Date 05 Sep 2008
Research
Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay.
Tewhey Ryan, Kotliar Dylan, Park Daniel S, Liu Brandon, Winnicki Sarah ...
Cell Vol 165(6)
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Date 02 Jun 2016
Research
Genomic instability and aging-like phenotype in the absence of mammalian SIRT6.
Mostoslavsky Raul, Chua Katrin F, Lombard David B, Pang Wendy W, Fischer Miriam R ...
Cell Vol 124(2)
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Date 27 Jan 2006
Research
Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Polubriaginof Fernanda C G, Vanguri Rami, Quinnies Kayla, Belbin Gillian M, Yahi Alexandre ...
Cell Vol 173(7)
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Date 14 Jun 2018
Research
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Liu Pengfei, Yuan Bo, Carvalho Claudia M B, Wuster Arthur, Walter Klaudia ...
Cell Vol 168(5)
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Date 23 Feb 2017
Research
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong Yin Yao, Wang Hua, Pike Ashley C W, Cochrane Stephen A, Hamedzadeh Sadra ...
Cell Vol 175(4)
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Date 01 Nov 2018
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