1,338,954 results match your criteria: "Genetic Variation"

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The biology and genetics of curly hair.
Gillian E Westgate, Rebecca S Ginger, Martin R Green

Exp Dermatol· June 2017

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Toward a consensus on SNP and STR mutation rates on the human Y-chromosome.
O Balanovsky

Hum Genet· May 2017

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The Y chromosomes of the great apes.
Pille Hallast, Mark A Jobling

Hum Genet· May 2017

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Forensic use of Y-chromosome DNA: a general overview.
Manfred Kayser

Hum Genet· May 2017

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Taming the late Quaternary phylogeography of the Eurasiatic wild ass through ancient and modern DNA.
E Andrew Bennett, Sophie Champlot, Joris Peters, Benjamin S Arbuckle, Silvia Guimaraes

April 2017

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Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Zachary R Chalmers, Caitlin F Connelly, David Fabrizio, Laurie Gay, Siraj M Ali

Genome Med· April 2017

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The 2017 international classification of the Ehlers-Danlos syndromes.
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund

Am J Med Genet C Semin Med Genet· March 2017

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Ancestry and demography and descendants of Iron Age nomads of the Eurasian Steppe.
Martina Unterländer, Friso Palstra, Iosif Lazaridis, Aleksandr Pilipenko, Zuzana Hofmanová

Nat Commun· March 2017

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Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.
Sara Jane Webb, Michelle M Garrison, Raphael Bernier, Abbi M McClintic, Bryan H King

Autism Res· March 2017

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Excess of genomic defects in a woolly mammoth on Wrangel island.
Rebekah L Rogers, Montgomery Slatkin

March 2017

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Creatine maintains intestinal homeostasis and protects against colitis.
Emre Turer, William McAlpine, Kuan-Wen Wang, Tianshi Lu, Xiaohong Li

February 2017

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Impacts of Neanderthal-Introgressed Sequences on the Landscape of Human Gene Expression.
Rajiv C McCoy, Jon Wakefield, Joshua M Akey

February 2017

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Implications of human evolution and admixture for mitochondrial replacement therapy.
Lavanya Rishishwar, I King Jordan

BMC Genomics· February 2017

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Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Marta Unolt, Lauren DiCairano, Kathryn Schlechtweg, Jessica Barry, Lori Howell

January 2017

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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader

December 2016

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Goldfish morphology as a model for evolutionary developmental biology.
Kinya G Ota, Gembu Abe

Wiley Interdiscip Rev Dev Biol· December 2016

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Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.
Amit V Khera, Connor A Emdin, Isabel Drake, Pradeep Natarajan, Alexander G Bick

December 2016

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Tryptophan and Cysteine Mutations in M1 Helices of α1β3γ2L γ-Aminobutyric Acid Type A Receptors Indicate Distinct Intersubunit Sites for Four Intravenous Anesthetics and One Orphan Site.
Anahita Nourmahnad, Alex T Stern, Mayo Hotta, Deirdre S Stewart, Alexis M Ziemba

Anesthesiology· December 2016

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Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes.
Brian A Ference, Jennifer G Robinson, Robert D Brook, Alberico L Catapano, M John Chapman

December 2016

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Mutational signatures associated with tobacco smoking in human cancer.
Ludmil B Alexandrov, Young Seok Ju, Kerstin Haase, Peter Van Loo, Iñigo Martincorena

Science· November 2016

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Progressive Loss of Function in a Limb Enhancer during Snake Evolution.
Evgeny Z Kvon, Olga K Kamneva, Uirá S Melo, Iros Barozzi, Marco Osterwalder

Cell· October 2016

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The Heidelberg Screen for Pattern Mutants of Drosophila: A Personal Account.
Eric Wieschaus, Christiane Nüsslein-Volhard

Annu Rev Cell Dev Biol· October 2016

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Convergent evolution of caffeine in plants by co-option of exapted ancestral enzymes.
Ruiqi Huang, Andrew J O'Donnell, Jessica J Barboline, Todd J Barkman

Proc Natl Acad Sci U S A· September 2016

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Spatiotemporal microbial evolution on antibiotic landscapes.
Michael Baym, Tami D Lieberman, Eric D Kelsic, Remy Chait, Rotem Gross

Science· September 2016

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Captivity humanizes the primate microbiome.
Jonathan B Clayton, Pajau Vangay, Hu Huang, Tonya Ward, Benjamin M Hillmann

Proc Natl Acad Sci U S A· September 2016

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A Cas9 Variant for Efficient Generation of Indel-Free Knockin or Gene-Corrected Human Pluripotent Stem Cells.
Sara E Howden, Bradley McColl, Astrid Glaser, Jim Vadolas, Steven Petrou

Stem Cell Reports· September 2016

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A thrifty variant in CREBRF strongly influences body mass index in Samoans.
Ryan L Minster, Nicola L Hawley, Chi-Ting Su, Guangyun Sun, Erin E Kershaw

Nat Genet· September 2016

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Familial hereditary cardiac myxoma: report of three cases and literature review.
Qian Yao, Bin Zhan, Huimin Liu, Liu Luo, Lin Tang

BMC Cardiovasc Disord· December 2025

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Chromosome-level genome of Proserpinaca palustris reveals key KNOX genes related to heterophylly formation.
Yanjing Dong, Qian Qin, Fengqin Li, Zhonghua Tu, Chengyi Tang

BMC Plant Biol· December 2025

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Genotype × environment interactions and genetic variation reveal stable, high-yielding, and organosulfur-rich garlic cultivars adapted to tropical conditions.
Baswarsiati Baswarsiati, Wiwiek Harsonowati, Dewi Pramanik, Zainal Arifin, Chendy Tafakresnanto

Sci Rep· December 2025

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Acute myeloid leukemia with bipotential erythroid and megakaryocytic differentiation: a case series and literature review.
Li-Wei Liu, Shanelle J De Lancy, Stephanie N Hurwitz

J Hematop· December 2025

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An integrated view of the structure and function of the human 4D nucleome.
Job Dekker, Betul Akgol Oksuz, Yang Zhang, Ye Wang, Miriam K Minsk

Nature· December 2025

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Temporal and regional dynamics of Mycobacterium tuberculosis in Oman.
Reham Ahmed Hashim, Abeer Al Zubaidi, Fatma Al Ghafri, Amina Al-Jardani, Saleh Al-Azri

Sci Rep· December 2025

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Morphological attributes, biochemical parameters, phytochemical constituents and antioxidant activities of endangered Citrus macroptera Mont (Hatkora.) from North-East India.
Esther Lalruatsangi, Tridip Kumar Hazarika, Rody Ngurthankhumi, Lalnunzawma, Vandenhawii Chawlkha

Sci Rep· December 2025

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Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.
Muflihatul Muniroh, Christina Hari Nawangsih Prihharsanti, Edward Kurnia Setiawan Limijadi, Yan Wisnu Prajoko, Yusril Ichzana

Sci Rep· December 2025

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AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease.
Chengda Ren, Li Song, Ming Hu, Xiu Jin, Licong Liang

Nat Commun· December 2025

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[Value of gene mutation in the prognosis and treatment of multiple myeloma].
L L Cheng, J L Zhuang

Zhonghua Xue Ye Xue Za Zhi· November 2025

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[Primary familial and congenital polycythemia caused by EPOR gene mutation: two cases report and literature review].
D H Ning, M Jiao, L Qin, Q Y Gao, L J Pan

Zhonghua Xue Ye Xue Za Zhi· November 2025

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[Treatment with interferon α-1b, interleukin-2, and thalidomide for persistent RUNX1::RUNX1T1 in a patient with KIT-mutated acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation: a case report and literature review].
R H Mi, L Chen, L Wang, Y X Ma, Y W Fu

Zhonghua Xue Ye Xue Za Zhi· November 2025

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[The clinical study of azacitidine and lenalidomide combination in myelodysplastic neoplasm patients with TP53 mutations].
X Yan, C H Guo, C Yang, C Q Lin, D D Song

Zhonghua Xue Ye Xue Za Zhi· November 2025

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[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Q Wang, H Cai, L L Lin, J Li, B Han

Zhonghua Xue Ye Xue Za Zhi· November 2025

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[Myelodysplastic neoplasms with acute myeloid leukemia-like mutations: clinical features, molecular profiles, and prognosis].
Z F Bao, L L Liu, B Li, T J Qin, Z F Xu

Zhonghua Xue Ye Xue Za Zhi· November 2025

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Dual checkpoint inhibitor therapy versus dual targeted therapy of untreated metastatic BRAF-mutant melanoma: a systematic review of randomised controlled trials.
Frank Peinemann, Sarah Baradaran, Kevin Bernhard Arnolds, Marc Hoemberg

BMJ Open· December 2025

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Application of ultrasound and artificial intelligence in the prediction of fetal chromosomal numerical abnormalities.
Lin-Yao Tang, Jing-Rou-Zi Wu, Ge Lin

Yi Chuan· December 2025

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Current understanding of mitochondrial DNA genetic diseases and gene therapy.
Cheng Tang, Shun-Qing Xu, Han-Zeng Li

Yi Chuan· December 2025

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Serine Mutation on Amicyanin Reveals Functional and Structural Roles of Asn47 and Asn54 in the Cu-Binding Ligand Containing Loop.
Eunjeong Kim, Hyojin Jeong, Heejin Nam, Seounghoon Jeoung, Jaeyeong Shin

J Microbiol Biotechnol· December 2025

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Integrating multi-omic summary data identifies candidate molecular mechanisms for Major Depression.
Laurence Nisbet, Yang Wu, Mark Adams, Mary-Ellen Lynall, Jens Hjerling-Leffler

Biol Psychiatry· December 2025

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Association of female reproductive traits with altered aging trajectories: Insights from genetic and observational analyses.
Chen Lou, Guiquan Wang, Zuquan Xiong, Yingxin Celia Jiang, Yan Li

Cell Rep Med· December 2025

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CfDNA-based copy-number dynamics during anti-PD1 treatment in metastatic triple negative breast cancer.
Aaron Y Lin, Olga I Isaeva, Teoman Deger, Veerle C M Geurts, Daan C L Vessies

Cell Rep Med· December 2025

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Metabolomic signatures predict heterotic performance in opium poppy (Papaver somniferum).
Trishna Chaturvedi, Abhishek Kushwaha, Yash Pandey, Anil Kumar Gupta, Gunjan Tiwari

Plant Physiol Biochem· December 2025

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Genetic, pathogenic, and antigenic characterization of GX-1, a novel infectious bronchitis virus genotype identified in South Korea.
Seung-Ji Kim, Ho-Won Kim, Sun-Min Ahn, Seung-Eun Son, Jin-Ha Song

Poult Sci· December 2025

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Genetic Variants in the Transcription Factor Network: The Impact of 2 and in Primary Lymphedema.
V Gelanova, D Veselenyiova, R Kozacikova, I Belanova, G Bonetti

Lymphology· December 2025

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Dual PI3K/mTOR inhibition is required to combat resistance to CDK4/6 inhibitor and endocrine therapy in -mutant breast cancer.
Carla L Alves, Leena Karimi, Mikkel G Terp, Mie K Jakobsen, Fiona H Zhou

Sci Transl Med· December 2025

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