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Academic Journal

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.

  • Authors : Williams SG; Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Byrne DJF

Subjects: Genetic Variation*; Biological Specimen Banks/Biological Specimen Banks/Biological Specimen Banks/*statistics & numerical data ; GATA6 Transcription Factor/GATA6 Transcription Factor/GATA6 Transcription Factor/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2022 Feb; Vol. 67 (2), pp. 123-125. Date of Electronic Publication: 2021 Sep 07.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel CLTC variants cause new brain and kidney phenotypes.

  • Authors : Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.; Miyatake S

Subjects: Brain* ; Genetic Variation* ; Kidney*

  • Source: Journal of human genetics [J Hum Genet] 2022 Jan; Vol. 67 (1), pp. 1-7. Date of Electronic Publication: 2021 Jul 07.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidence.

  • Authors : García A; Instituto de Antropología de Córdoba (IDACOR), CONICET/Universidad Nacional de Córdoba, 5000, Córdoba, Argentina. .; Pauro M

Subjects: Chromosomes, Human, Y* ; DNA, Mitochondrial* ; Genetic Variation*

  • Source: Journal of human genetics [J Hum Genet] 2018 Apr; Vol. 63 (4), pp. 493-507. Date of Electronic Publication: 2018 Jan 29.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

  • Authors : Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.

Subjects: Genetic Predisposition to Disease* ; Genetic Variation*; Hereditary Central Nervous System Demyelinating Diseases/Hereditary Central Nervous System Demyelinating Diseases/Hereditary Central Nervous System Demyelinating Diseases/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Aug; Vol. 66 (8), pp. 761-768. Date of Electronic Publication: 2021 Feb 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.

  • Authors : Ogiwara Y; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo, Japan.

Subjects: Chromosome Aberrations* ; Genetic Variation* ; Phenotype*

  • Source: Journal of human genetics [J Hum Genet] 2021 Dec; Vol. 66 (12), pp. 1181-1184. Date of Electronic Publication: 2021 Jun 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.

  • Authors : Haryanyan G; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.

Subjects: Alleles* ; Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease*

  • Source: Journal of human genetics [J Hum Genet] 2021 Dec; Vol. 66 (12), pp. 1145-1151. Date of Electronic Publication: 2021 Jun 11.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.

  • Authors : Sundaramurthy S; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.; PhD Scholar, Birla Institute of Technology & Science (BITS), Hyderabad, India.

Subjects: Chromosome Mapping* ; Genetic Association Studies* ; Genetic Variation*

  • Source: Journal of human genetics [J Hum Genet] 2016 Nov; Vol. 61 (11), pp. 951-958. Date of Electronic Publication: 2016 Jul 07.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Unique roles of rare variants in the genetics of complex diseases in humans.

  • Authors : Momozawa Y; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan. .; Laboratory for Molecular Science for Drug Discovery, Graduate School of Medical Life Science, Yokohama City University, Kanagawa, Japan. .

Subjects: Genetic Variation* ; Polymorphism, Single Nucleotide*; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Jan; Vol. 66 (1), pp. 11-23. Date of Electronic Publication: 2020 Sep 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A review of UMAP in population genetics.

  • Authors : Diaz-Papkovich A; Quantitative Life Sciences Program, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.

Subjects: Genetic Variation*; Computational Biology/Computational Biology/Computational Biology/*methods ; Genetics, Population/Genetics, Population/Genetics, Population/*methods

  • Source: Journal of human genetics [J Hum Genet] 2021 Jan; Vol. 66 (1), pp. 85-91. Date of Electronic Publication: 2020 Oct 14.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Human genetic variation database, a reference database of genetic variations in the Japanese population.

  • Authors : Higasa K; Human Disease Genomics, Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Miyake N

Subjects: Databases, Genetic* ; Genetic Variation* ; Genetics, Population*

  • Source: Journal of human genetics [J Hum Genet] 2016 Jun; Vol. 61 (6), pp. 547-53. Date of Electronic Publication: 2016 Feb 25.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  1,940 results for ""Genetic Variation""