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1
Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient
Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient
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Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Egyptian Journal of Medical Human Genetics, 2022-12, Vol.23 (1), p.1-6 [Peer Reviewed Journal]

The Author(s) 2022 ;COPYRIGHT 2022 Springer ;The Author(s) 2022. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-022-00356-z

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2
Clinical profile of cyanotic congenital heart disease in neonatal intensive care unit at Sohag University Hospital, Upper Egypt
Clinical profile of cyanotic congenital heart disease in neonatal intensive care unit at Sohag University Hospital, Upper Egypt
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Clinical profile of cyanotic congenital heart disease in neonatal intensive care unit at Sohag University Hospital, Upper Egypt

The Egyptian journal of medical human genetics, 2017-01, Vol.18 (1), p.47-51 [Peer Reviewed Journal]

2016 Ain Shams University ;Copyright Egyptian Society of Medical Human Genetics Jan 1, 2017 ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2016.01.003

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3
Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study
Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study
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Impact of PAI-1 4G/5G and C > G polymorphisms in acute ST elevation myocardial infarction and stable angina patients: A single center Egyptian study

The Egyptian journal of medical human genetics, 2018-10, Vol.19 (4), p.325-331 [Peer Reviewed Journal]

2018 Ain Shams University ;2018. This work is published under https://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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2018.05.003

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4
The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians
The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians
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The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians

The Egyptian journal of medical human genetics, 2018-01, Vol.19 (1), p.19-22 [Peer Reviewed Journal]

2017 Ain Shams University ;Copyright Egyptian Society of Medical Human Genetics Jan 2018 ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2017.08.007

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5
The association of apolipoprotein-E (APOE) gene polymorphisms with coronary artery disease: a systematic review and meta-analysis
The association of apolipoprotein-E (APOE) gene polymorphisms with coronary artery disease: a systematic review and meta-analysis
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The association of apolipoprotein-E (APOE) gene polymorphisms with coronary artery disease: a systematic review and meta-analysis

Egyptian Journal of Medical Human Genetics, 2021-03, Vol.22 (1), p.1-8 [Peer Reviewed Journal]

The Author(s) 2021 ;COPYRIGHT 2021 Springer ;The Author(s) 2021. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-021-00135-2

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6
MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin
MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin
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MTRR gene variants may predispose to the risk of Congenital Heart Disease in Down syndrome patients of Indian origin

The Egyptian journal of medical human genetics, 2017-01, Vol.18 (1), p.61-66 [Peer Reviewed Journal]

2016 Ain Shams University ;Copyright Egyptian Society of Medical Human Genetics Jan 1, 2017 ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2016.02.006

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7
Common variant of 5,10-methylenetetrahydrofolate reductase may increase risk of coronary artery disease in the Iranian population
Common variant of 5,10-methylenetetrahydrofolate reductase may increase risk of coronary artery disease in the Iranian population
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Common variant of 5,10-methylenetetrahydrofolate reductase may increase risk of coronary artery disease in the Iranian population

The Egyptian journal of medical human genetics, 2018-01, Vol.19 (1), p.1-5 [Peer Reviewed Journal]

2017 Ain Shams University ;Copyright Egyptian Society of Medical Human Genetics Jan 2018 ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2017.11.004

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8
Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population
Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population
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Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population

The Egyptian journal of medical human genetics, 2017-10, Vol.18 (4), p.315-320 [Peer Reviewed Journal]

2017 Ain Shams University ;Copyright Egyptian Society of Medical Human Genetics Oct 1, 2017 ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2017.01.002

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9
Cataloging the potential SNPs (single nucleotide polymorphisms) associated with quantitative traits, viz. BMI (body mass index), IQ (intelligence quotient) and BP (blood pressure): an updated review
Cataloging the potential SNPs (single nucleotide polymorphisms) associated with quantitative traits, viz. BMI (body mass index), IQ (intelligence quotient) and BP (blood pressure): an updated review
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Cataloging the potential SNPs (single nucleotide polymorphisms) associated with quantitative traits, viz. BMI (body mass index), IQ (intelligence quotient) and BP (blood pressure): an updated review

Egyptian Journal of Medical Human Genetics, 2022-03, Vol.23 (1), p.1-24 [Peer Reviewed Journal]

The Author(s) 2022 ;The Author(s) 2022. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-022-00266-0

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10
cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population
cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population
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cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population

Egyptian Journal of Medical Human Genetics, 2024-02, Vol.25 (1), p.26-8 [Peer Reviewed Journal]

The Author(s) 2024 ;The Author(s) 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-024-00498-2

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11
Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype
Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype
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Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype

Egyptian Journal of Medical Human Genetics, 2021-03, Vol.22 (1), p.1-7 [Peer Reviewed Journal]

The Author(s) 2021 ;COPYRIGHT 2021 Springer ;The Author(s) 2021. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-021-00136-1

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12
Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype
Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype
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Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype

Egyptian Journal of Medical Human Genetics, 2020-11, Vol.21 (1) [Peer Reviewed Journal]

The Author(s) 2020 ;COPYRIGHT 2020 Springer ;The Author(s) 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-020-00093-1

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13
The β fibrinogen gene G-455A polymorphism in Asian subjects with coronary heart disease: A meta analysis
The β fibrinogen gene G-455A polymorphism in Asian subjects with coronary heart disease: A meta analysis
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The β fibrinogen gene G-455A polymorphism in Asian subjects with coronary heart disease: A meta analysis

The Egyptian journal of medical human genetics, 2017-01, Vol.18 (1), p.19-28 [Peer Reviewed Journal]

2016 Ain Shams University ;Copyright Egyptian Society of Medical Human Genetics Jan 1, 2017 ;ISSN: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1016/j.ejmhg.2016.06.002

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14
Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects
Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects
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Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Egyptian Journal of Medical Human Genetics, 2020-10, Vol.21 (1), p.1-10 [Peer Reviewed Journal]

The Author(s) 2020 ;COPYRIGHT 2020 Springer ;The Author(s) 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-020-00101-4

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15
Circulating expression patterns of TL1A and FFAR2 in patients with stable and unstable angina
Circulating expression patterns of TL1A and FFAR2 in patients with stable and unstable angina
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Circulating expression patterns of TL1A and FFAR2 in patients with stable and unstable angina

Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.4-9 [Peer Reviewed Journal]

The Author(s) 2023 ;COPYRIGHT 2023 Springer ;The Author(s) 2023. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-023-00386-1

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16
Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene
Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene
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Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene

Egyptian Journal of Medical Human Genetics, 2022-03, Vol.23 (1), p.28-9 [Peer Reviewed Journal]

The Author(s) 2022 ;COPYRIGHT 2022 Springer ;The Author(s) 2022. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-022-00241-9

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17
Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India
Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India
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Association between PON1 rs662 gene polymorphism and serum paraoxonase1 level in coronary artery disease patients in Northern India

Egyptian Journal of Medical Human Genetics, 2021-09, Vol.22 (1), p.1-8 [Peer Reviewed Journal]

The Author(s) 2021 ;COPYRIGHT 2021 Springer ;The Author(s) 2021. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-021-00196-3

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18
Association of methylation status of ABCA1/G1 genes with the risk of coronary artery disease
Association of methylation status of ABCA1/G1 genes with the risk of coronary artery disease
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Association of methylation status of ABCA1/G1 genes with the risk of coronary artery disease

Egyptian Journal of Medical Human Genetics, 2022-12, Vol.23 (1), p.167-10 [Peer Reviewed Journal]

The Author(s) 2022 ;COPYRIGHT 2022 Springer ;The Author(s) 2022. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-022-00381-y

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19
Hematological indices in pediatric patients with acyanotic congenital heart disease: a cross-sectional study of 248 patients
Hematological indices in pediatric patients with acyanotic congenital heart disease: a cross-sectional study of 248 patients
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Hematological indices in pediatric patients with acyanotic congenital heart disease: a cross-sectional study of 248 patients

Egyptian Journal of Medical Human Genetics, 2022-03, Vol.23 (1), p.1-8 [Peer Reviewed Journal]

The Author(s) 2022 ;COPYRIGHT 2022 Springer ;The Author(s) 2022. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-022-00262-4

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20
Association of the ANGPTL3 gene polymorphisms and haplotypes with cardiovascular diseases in Birjand longitudinal aging study (BLAS)
Association of the ANGPTL3 gene polymorphisms and haplotypes with cardiovascular diseases in Birjand longitudinal aging study (BLAS)
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Association of the ANGPTL3 gene polymorphisms and haplotypes with cardiovascular diseases in Birjand longitudinal aging study (BLAS)

Egyptian Journal of Medical Human Genetics, 2022-12, Vol.23 (1), p.161-9 [Peer Reviewed Journal]

The Author(s) 2022 ;COPYRIGHT 2022 Springer ;The Author(s) 2022. 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: 1110-8630 ;EISSN: 2090-2441 ;DOI: 10.1186/s43042-022-00366-x

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