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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-345, Article 345 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed 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. ;Attribution ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-01957-4 ;PMID: 34348744

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2
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
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118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

BMC medical genetics, 2009-06, Vol.10 (1), p.49-49, Article 49 [Peer Reviewed Journal]

COPYRIGHT 2009 BioMed Central Ltd. ;Copyright © 2009 Shaw et al; licensee BioMed Central Ltd. 2009 Shaw et al; licensee BioMed Central Ltd. ;ISSN: 1471-2350 ;EISSN: 1471-2350 ;DOI: 10.1186/1471-2350-10-49 ;PMID: 19493349

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3
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
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11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

BMC medical genomics, 2021-04, Vol.14 (1), p.99-99, Article 99 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed 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: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-021-00945-8 ;PMID: 33836758

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4
16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
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16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

BMC pregnancy and childbirth, 2022-12, Vol.22 (1), p.913-913 [Peer Reviewed Journal]

2022. The Author(s). ;2022. This work is licensed 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 ;EISSN: 1471-2393 ;DOI: 10.1186/s12884-022-05267-w ;PMID: 36476185

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5
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype
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17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.106-106, Article 106 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. This work is licensed 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). 2018 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0838-y ;PMID: 29970136

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6
2019 Congress of the Italian Society of Neonatology
2019 Congress of the Italian Society of Neonatology
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2019 Congress of the Italian Society of Neonatology

Italian journal of pediatrics, 2019-12, Vol.45(Suppl 2) (S2), p.1-16 [Peer Reviewed Journal]

2019. This work is licensed 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: 1720-8424 ;EISSN: 1824-7288 ;DOI: 10.1186/s13052-019-0729-4

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7
2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome
2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome
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2D DIGE analysis of maternal plasma for potential biomarkers of Down Syndrome

Proteome science, 2011-09, Vol.9 (1), p.56-56, Article 56 [Peer Reviewed Journal]

COPYRIGHT 2011 BioMed Central Ltd. ;2011 Heywood et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright ©2011 Heywood et al; licensee BioMed Central Ltd. 2011 Heywood et al; licensee BioMed Central Ltd. ;ISSN: 1477-5956 ;EISSN: 1477-5956 ;DOI: 10.1186/1477-5956-9-56 ;PMID: 21929753

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8
3D black blood cardiovascular magnetic resonance atlases of congenital aortic arch anomalies and the normal fetal heart: application to automated multi-label segmentation
3D black blood cardiovascular magnetic resonance atlases of congenital aortic arch anomalies and the normal fetal heart: application to automated multi-label segmentation
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3D black blood cardiovascular magnetic resonance atlases of congenital aortic arch anomalies and the normal fetal heart: application to automated multi-label segmentation

Journal of cardiovascular magnetic resonance, 2022-12, Vol.24 (1), p.71-71 [Peer Reviewed Journal]

2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed 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: 1097-6647 ;EISSN: 1532-429X ;DOI: 10.1186/s12968-022-00902-z ;PMID: 36517850

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9
3D brain Organoids derived from pluripotent stem cells: promising experimental models for brain development and neurodegenerative disorders
3D brain Organoids derived from pluripotent stem cells: promising experimental models for brain development and neurodegenerative disorders
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3D brain Organoids derived from pluripotent stem cells: promising experimental models for brain development and neurodegenerative disorders

Journal of biomedical science, 2017-08, Vol.24 (1), p.59-59, Article 59 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1423-0127 ;ISSN: 1021-7770 ;EISSN: 1423-0127 ;DOI: 10.1186/s12929-017-0362-8 ;PMID: 28822354

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10
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
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3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

Molecular cytogenetics, 2014-09, Vol.7 (1), p.59-59, Article 59 [Peer Reviewed Journal]

COPYRIGHT 2014 BioMed Central Ltd. ;2014 Dupont et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;Dupont et al.; licensee BioMed Central Ltd. 2014 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-014-0059-6 ;PMID: 25320640

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11
3D printed models in pregnancy and its utility in improving psychological constructs: a case series
3D printed models in pregnancy and its utility in improving psychological constructs: a case series
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3D printed models in pregnancy and its utility in improving psychological constructs: a case series

3D printing in medicine, 2022-06, Vol.8 (1), p.16-16, Article 16 [Peer Reviewed Journal]

The Author(s) 2022 ;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. ;ISSN: 2365-6271 ;EISSN: 2365-6271 ;DOI: 10.1186/s41205-022-00144-w ;PMID: 35678895

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12
3D printing of foetal vascular rings: feasibility and applicability
3D printing of foetal vascular rings: feasibility and applicability
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3D printing of foetal vascular rings: feasibility and applicability

BMC pregnancy and childbirth, 2023-05, Vol.23 (1), p.355-355, Article 355 [Peer Reviewed Journal]

2023. The Author(s). ;2023. This work is licensed 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) 2023 ;ISSN: 1471-2393 ;EISSN: 1471-2393 ;DOI: 10.1186/s12884-023-05683-6 ;PMID: 37194003

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13
3D structured illumination microscopy of mammalian embryos and spermatozoa
3D structured illumination microscopy of mammalian embryos and spermatozoa
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3D structured illumination microscopy of mammalian embryos and spermatozoa

BMC developmental biology, 2015-11, Vol.15 (1), p.46-46, Article 46 [Peer Reviewed Journal]

COPYRIGHT 2015 BioMed Central Ltd. ;COPYRIGHT 2015 BioMed Central Ltd. ;Copyright BioMed Central 2015 ;Popken et al. 2015 ;ISSN: 1471-213X ;EISSN: 1471-213X ;DOI: 10.1186/s12861-015-0092-7 ;PMID: 26610350

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14
45,X mosaicism in northeast China: a clinical report and review of the literature
45,X mosaicism in northeast China: a clinical report and review of the literature
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45,X mosaicism in northeast China: a clinical report and review of the literature

Journal of assisted reproduction and genetics, 2013-03, Vol.30 (3), p.407-412 [Peer Reviewed Journal]

The Author(s) 2013 ;Springer Science+Business Media New York 2013 ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-012-9927-3 ;PMID: 23299637

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15
5-Hydroxymethylcytosine (5hmC) at or near cancer mutation hot spots as potential targets for early cancer detection
5-Hydroxymethylcytosine (5hmC) at or near cancer mutation hot spots as potential targets for early cancer detection
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5-Hydroxymethylcytosine (5hmC) at or near cancer mutation hot spots as potential targets for early cancer detection

BMC research notes, 2022-04, Vol.15 (1), p.143-143, Article 143 [Peer Reviewed Journal]

2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed 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: 1756-0500 ;EISSN: 1756-0500 ;DOI: 10.1186/s13104-022-06028-w ;PMID: 35449110

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16
5-hydroxymethylcytosine is highly dynamic across human fetal brain development
5-hydroxymethylcytosine is highly dynamic across human fetal brain development
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5-hydroxymethylcytosine is highly dynamic across human fetal brain development

BMC genomics, 2017-09, Vol.18 (1), p.738-738, Article 738 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;2017. This work is licensed 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). 2017 ;ISSN: 1471-2164 ;EISSN: 1471-2164 ;DOI: 10.1186/s12864-017-4091-x ;PMID: 28923016

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17
5p deletion with congenital diaphragmatic hernia: a case report
5p deletion with congenital diaphragmatic hernia: a case report
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5p deletion with congenital diaphragmatic hernia: a case report

Journal of medical case reports, 2022-10, Vol.16 (1), p.1-390, Article 390 [Peer Reviewed Journal]

COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed 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: 1752-1947 ;EISSN: 1752-1947 ;DOI: 10.1186/s13256-022-03579-1

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18
6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype
6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype
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6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype

BMC cardiovascular disorders, 2020-03, Vol.20 (1), p.137-7, Article 137 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed 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: 1471-2261 ;EISSN: 1471-2261 ;DOI: 10.1186/s12872-020-01404-5 ;PMID: 32183715

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19
7nAchR/NMDAR coupling affects NMDAR function and object recognition
7nAchR/NMDAR coupling affects NMDAR function and object recognition
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7nAchR/NMDAR coupling affects NMDAR function and object recognition

Molecular brain, 2013-12, Vol.6 (1), p.58-58 [Peer Reviewed Journal]

COPYRIGHT 2013 BioMed Central Ltd. ;2013 Li et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;ISSN: 1756-6606 ;EISSN: 1756-6606 ;DOI: 10.1186/1756-6606-6-58

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20
9q22 Deletion--first familial case
9q22 Deletion--first familial case
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9q22 Deletion--first familial case

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.45-45 [Peer Reviewed Journal]

COPYRIGHT 2011 BioMed Central Ltd. ;COPYRIGHT 2011 BioMed Central Ltd. ;Copyright ©2011 Siggberg et al; licensee BioMed Central Ltd. 2011 Siggberg et al; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-6-45 ;PMID: 21693067

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