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Refined by: Journal Title: Molecular Genetics & Genomic Medicine

subject: Mutation

Result Number	Material Type	Record Details and Options
1	Material Type: Article	Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing Molecular genetics & genomic medicine, 2022-10, Vol.10 (10), p.e2045-n/a [Peer Reviewed Journal] 2022 The Authors. published by Wiley Periodicals LLC. ;2022. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2045 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2320-n/a [Peer Reviewed Journal] 2023 The Authors. published by Wiley Periodicals LLC. ;2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2320 ;PMID: 37947113 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review Molecular genetics & genomic medicine, 2024-05, Vol.12 (5), p.e2431-n/a [Peer Reviewed Journal] 2024 The Authors. published by Wiley Periodicals LLC. ;2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2431 ;PMID: 38702946 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Mutational spectrum in a Chinese cohort with congenital cataracts Molecular genetics & genomic medicine, 2023-09, Vol.11 (9), p.e2196-e2196 [Peer Reviewed Journal] 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 The Authors. published by Wiley Periodicals LLC. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2196 ;PMID: 37337769 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1406-n/a [Peer Reviewed Journal] 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1406 ;PMID: 32748548 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2153-n/a [Peer Reviewed Journal] 2023 Next Generation Genetic polyclinic. published by Wiley Periodicals LLC. ;2023 Next Generation Genetic polyclinic. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2153 ;PMID: 36794879 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong Molecular genetics & genomic medicine, 2023-08, Vol.11 (8), p.e2185-n/a [Peer Reviewed Journal] 2023 The Authors. published by Wiley Periodicals LLC. ;2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2185 ;PMID: 37070846 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2319-n/a [Peer Reviewed Journal] 2023 The Authors. published by Wiley Periodicals LLC. ;2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2319 ;PMID: 38013226 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2 Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2350-n/a [Peer Reviewed Journal] 2023 The Authors. published by Wiley Periodicals LLC. ;2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2350 ;PMID: 38146907 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran Molecular genetics & genomic medicine, 2023-02, Vol.11 (2), p.e2099-n/a [Peer Reviewed Journal] 2022 The Authors. published by Wiley Periodicals LLC. ;2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2099 ;PMID: 36579437 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation Molecular genetics & genomic medicine, 2022-09, Vol.10 (9), p.e2008-n/a [Peer Reviewed Journal] 2022 The Authors. published by Wiley Periodicals LLC. ;2022. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2008 ;PMID: 35757965 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency Molecular genetics & genomic medicine, 2023-11, Vol.11 (11), p.e2239-e2239 [Peer Reviewed Journal] 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2239 ;PMID: 37466302 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review Molecular genetics & genomic medicine, 2022-11, Vol.10 (11), p.e2052-n/a [Peer Reviewed Journal] 2022 The Authors. published by Wiley Periodicals LLC. ;2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2022. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2052 ;PMID: 36056583 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review Molecular genetics & genomic medicine, 2022-12, Vol.10 (12), p.e2068-n/a [Peer Reviewed Journal] 2022 The Authors. published by Wiley Periodicals LLC. ;2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2022. This work is published under http://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2068 ;PMID: 36251950 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Clinical and genetic findings in Chinese families with congenital ectopia lentis Molecular genetics & genomic medicine, 2023-05, Vol.11 (5), p.e2140-n/a [Peer Reviewed Journal] 2023 The Authors. published by Wiley Periodicals LLC. ;2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2140 ;PMID: 36670079 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant Molecular genetics & genomic medicine, 2023-09, Vol.11 (9), p.e2234-e2234 [Peer Reviewed Journal] 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2023. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 The Authors. published by Wiley Periodicals LLC. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2234 ;PMID: 37498300 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Mutational burden and potential oligogenic model of TBX6‐mediated genes in congenital scoliosis Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1453-n/a [Peer Reviewed Journal] 2020 The Authors. published by Wiley Periodicals LLC. ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1453 ;PMID: 32815649 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2429-n/a [Peer Reviewed Journal] 2024 The Authors. published by Wiley Periodicals LLC. ;2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2429 ;PMID: 38553934 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2430-n/a [Peer Reviewed Journal] 2024 The Authors. published by Wiley Periodicals LLC. ;2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2430 ;PMID: 38581121 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2435-n/a [Peer Reviewed Journal] 2024 The Authors. published by Wiley Periodicals LLC. ;2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.2435 ;PMID: 38618971 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by