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1
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency
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Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency

Journal of human genetics, 2022-09, Vol.67 (9), p.533-539 [Peer Reviewed Journal]

2022. The Author(s). ;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. ;The Author(s) 2022 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-022-01041-0 ;PMID: 35578003

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2
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
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Whole exome sequencing of fetal structural anomalies detected by ultrasonography

Journal of human genetics, 2021-05, Vol.66 (5), p.499-507 [Peer Reviewed Journal]

The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-00869-8 ;PMID: 33144663

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3
Novel CLTC variants cause new brain and kidney phenotypes
Novel CLTC variants cause new brain and kidney phenotypes
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Novel CLTC variants cause new brain and kidney phenotypes

Journal of human genetics, 2022-01, Vol.67 (1), p.1-7 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics. ;The Author(s), under exclusive licence to The Japan Society of Human Genetics 2021. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-021-00957-3 ;PMID: 34230591

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4
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype
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OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

Journal of human genetics, 2022-01, Vol.67 (1), p.55-64 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics. ;The Author(s), under exclusive licence to The Japan Society of Human Genetics 2021. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-021-00966-2 ;PMID: 34354232

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5
Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test
Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test
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Postpartum questionnaire survey of women who tested negative in a non-invasive prenatal testing: examining negative emotions towards the test

Journal of human genetics, 2021-06, Vol.66 (6), p.579-584 [Peer Reviewed Journal]

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. ;The Author(s) 2020 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-00879-6 ;PMID: 33268813

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6
Two novel TCTN2 mutations cause Meckel-Gruber syndrome
Two novel TCTN2 mutations cause Meckel-Gruber syndrome
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Two novel TCTN2 mutations cause Meckel-Gruber syndrome

Journal of human genetics, 2020-11, Vol.65 (11), p.1039-1043 [Peer Reviewed Journal]

The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020. ;The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-0804-0 ;PMID: 32655147

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7
Characterization of early postzygotic somatic mutations through multi-organ analysis
Characterization of early postzygotic somatic mutations through multi-organ analysis
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Characterization of early postzygotic somatic mutations through multi-organ analysis

Journal of human genetics, 2021-08, Vol.66 (8), p.777-784 [Peer Reviewed Journal]

The Author(s), under exclusive licence to The Japan Society of Human Genetics 2021. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-021-00908-y ;PMID: 33611337

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8
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy
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Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy

Journal of human genetics, 2020-11, Vol.65 (11), p.1035-1038 [Peer Reviewed Journal]

The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-0789-8

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9
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
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The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease

Journal of human genetics, 2024-05, Vol.69 (5), p.215-222 [Peer Reviewed Journal]

2024. The Author(s). ;The Author(s) 2024. corrected publication 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. ;The Author(s) 2024, corrected publication 2024 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-024-01225-w ;PMID: 38409496

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10
Prevalence of common aneuploidy in twin pregnancies
Prevalence of common aneuploidy in twin pregnancies
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Prevalence of common aneuploidy in twin pregnancies

Journal of human genetics, 2022-05, Vol.67 (5), p.261-265 [Peer Reviewed Journal]

2021. The Author(s). ;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. ;The Author(s) 2021 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-021-01001-0 ;PMID: 34974528

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11
Admixture mapping of anthropometric traits in the Black Women's Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetes
Admixture mapping of anthropometric traits in the Black Women's Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetes
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Admixture mapping of anthropometric traits in the Black Women's Health Study: evidence of a shared African ancestry component with birth weight and type 2 diabetes

Journal of human genetics, 2022-06, Vol.67 (6), p.331-338 [Peer Reviewed Journal]

2022. The Author(s), under exclusive licence to The Japan Society of Human Genetics. ;The Author(s), under exclusive licence to The Japan Society of Human Genetics 2022. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-022-01010-7 ;PMID: 35017682

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12
Preimplantation genetic testing with HLA matching: from counseling to birth and beyond
Preimplantation genetic testing with HLA matching: from counseling to birth and beyond
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Preimplantation genetic testing with HLA matching: from counseling to birth and beyond

Journal of human genetics, 2020-05, Vol.65 (5), p.445-454 [Peer Reviewed Journal]

2020© The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-0732-z ;PMID: 32103123

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13
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes
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Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

Journal of human genetics, 2019-05, Vol.64 (5), p.487-492 [Peer Reviewed Journal]

2019© The Author(s) under exclusive licence to The Japan Society of Human Genetics 2019 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-019-0571-y ;PMID: 30765867

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14
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
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Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

Journal of human genetics, 2022-02, Vol.67 (2), p.95-101 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to The Japan Society of Human Genetics. ;The Author(s), under exclusive licence to The Japan Society of Human Genetics 2021. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-021-00971-5 ;PMID: 34400773

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15
Attitude and perceptions toward miscarriage: a survey of a general population in Japan
Attitude and perceptions toward miscarriage: a survey of a general population in Japan
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Attitude and perceptions toward miscarriage: a survey of a general population in Japan

Journal of human genetics, 2020-01, Vol.65 (2), p.155-164 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jan 2020 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-019-0694-1 ;PMID: 31761902

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16
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family
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Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

Journal of human genetics, 2019-11, Vol.64 (11), p.1067-1073 [Peer Reviewed Journal]

2019. 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. ;The Author(s) 2019 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-019-0651-z ;PMID: 31427716

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17
Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing
Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing
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Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing

Journal of human genetics, 2018-11, Vol.63 (11), p.1129-1137 [Peer Reviewed Journal]

Copyright Nature Publishing Group Nov 2018 ;The Author(s) under exclusive licence to The Japan Society of Human Genetics 2018. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-018-0489-9 ;PMID: 30131598

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18
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation
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A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Journal of human genetics, 2019-03, Vol.64 (3), p.207-214 [Peer Reviewed Journal]

Copyright Nature Publishing Group Mar 2019 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-018-0550-8 ;PMID: 30617278

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19
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
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A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Journal of human genetics, 2015-05, Vol.60 (5), p.277-279 [Peer Reviewed Journal]

Copyright Nature Publishing Group May 2015 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/jhg.2015.13 ;PMID: 25694107

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20
Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly
Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly
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Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly

Journal of human genetics, 2020-05, Vol.65 (5), p.455-459 [Peer Reviewed Journal]

2020© The Author(s), under exclusive licence to The Japan Society of Human Genetics 2020 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-020-0731-0 ;PMID: 32051522

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