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Editorial & Opinion

Color fundus imaging: The backbone of our journey in genotype-phenotype correlation.

  • Authors : Sen P; Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.; Maitra P

Subjects: Genetic Association Studies* ; Fundus Oculi*; Humans

  • Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2024 Apr 01; Vol. 72 (4), pp. 604-606. Date of Electronic Publication: 2024 Mar 28.Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

  • Authors : Stefanski A; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Pérez-Palma E

Subjects: GABA Plasma Membrane Transport Proteins*/GABA Plasma Membrane Transport Proteins*/GABA Plasma Membrane Transport Proteins*/genetics ; GABA Plasma Membrane Transport Proteins*/GABA Plasma Membrane Transport Proteins*/GABA Plasma Membrane Transport Proteins*/metabolism ; Genetic Association Studies*

  • Source: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5198-5208.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Transcriptional linkage analysis with in vivo AAV-Perturb-seq.

  • Authors : Santinha AJ; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.; Klingler E

Subjects: Dependovirus*/Dependovirus*/Dependovirus*/genetics ; Gene Editing* ; Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods

  • Source: Nature [Nature] 2023 Oct; Vol. 622 (7982), pp. 367-375. Date of Electronic Publication: 2023 Sep 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Rare variant associations with plasma protein levels in the UK Biobank.

Subjects: Biological Specimen Banks* ; Blood Proteins*/Blood Proteins*/Blood Proteins*/analysis ; Blood Proteins*/Blood Proteins*/Blood Proteins*/genetics

  • Source: Nature [Nature] 2023 Oct; Vol. 622 (7982), pp. 339-347. Date of Electronic Publication: 2023 Oct 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.

Subjects: Genetic Association Studies*; Genotype

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Sep; Vol. 31 (9), pp. 975-976. Date of Electronic Publication: 2023 May 29.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.

  • Authors : Kessi M; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.

Subjects: Intellectual Disability* ; Munc18 Proteins*/Munc18 Proteins*/Munc18 Proteins*/genetics ; Nitrazepam*

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Mar 07; Vol. 16 (1), pp. 46. Date of Electronic Publication: 2023 Mar 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

  • Authors : Barrio-Hernandez I; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.; Open Targets, Cambridge, UK.

Subjects: Genetic Pleiotropy* ; Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Cell Biology*

  • Source: Nature genetics [Nat Genet] 2023 Mar; Vol. 55 (3), pp. 389-398. Date of Electronic Publication: 2023 Feb 23.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity.

  • Authors : Ulhaq ZS; Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan.; Research Center for Pre-clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia.

Subjects: Genetic Association Studies* ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/diagnosis ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics

  • Source: Clinical genetics [Clin Genet] 2023 Feb; Vol. 103 (2), pp. 146-155. Date of Electronic Publication: 2022 Oct 17.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Report

Sex-specific association of SELL gene polymorphisms with pattern hair loss in the Thai population: A candidate gene association study and in silico functional characterization.

Subjects: Alopecia*/Alopecia*/Alopecia*/ethnology ; Alopecia*/Alopecia*/Alopecia*/genetics ; Genetic Association Studies*

  • Source: Journal of dermatological science [J Dermatol Sci] 2023 Feb; Vol. 109 (2), pp. 102-105. Date of Electronic Publication: 2023 Feb 14.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9011485 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic association studies with bivariate mixed responses subject to measurement error and misclassification.

  • Authors : Zhang Q; Department of Statistics and Actuarial Science, University of Waterloo, Waterloo, Ontario, N2L3G1, Canada.; Yi GY

Subjects: Bias* ; Genetic Association Studies*; Computer Simulation

  • Source: Statistics in medicine [Stat Med] 2020 Nov 20; Vol. 39 (26), pp. 3700-3719. Date of Electronic Publication: 2020 Sep 11.Publisher: Wiley Country of Publication: England NLM ID: 8215016 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0258

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  • 1-10 of  95,591 results for ""Genetic Association Studies""