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1
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan

Pakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Peer Reviewed Journal]

Copyright: © Pakistan Journal of Medical Sciences. ;COPYRIGHT 2021 Knowledge Bylanes ;COPYRIGHT 2021 Knowledge Bylanes ;(c)2021 Pakistan Journal of Medical Sciences ;Copyright: © Pakistan Journal of Medical Sciences 2021 ;ISSN: 1682-024X ;EISSN: 1681-715X ;DOI: 10.12669/pjms.37.1.2991 ;PMID: 33437285

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2
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Scientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184 [Peer Reviewed Journal]

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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-19274-6 ;PMID: 36071085

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3
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Disease models & mechanisms, 2017-08, Vol.10 (8), p.955-970 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;2017. This work is licensed under http://creativecommons.org/licenses/by/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.028365 ;PMID: 28768736

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4
TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome
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TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

PLoS genetics, 2018-10, Vol.14 (10), p.e1007692-e1007692 [Peer Reviewed Journal]

COPYRIGHT 2018 Public Library of Science ;2018 Corbitt et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2018 Corbitt et al 2018 Corbitt et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007692 ;PMID: 30281655

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5
SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment
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SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment

Nature communications, 2015-12, Vol.6 (1), p.10004, Article 10004 [Peer Reviewed Journal]

Copyright Nature Publishing Group Dec 2015 ;Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms10004 ;PMID: 26643973

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6
Understanding the interaction between cytomegalovirus and tuberculosis in children: The way forward
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Understanding the interaction between cytomegalovirus and tuberculosis in children: The way forward

PLoS pathogens, 2021-12, Vol.17 (12), p.e1010061-e1010061 [Peer Reviewed Journal]

COPYRIGHT 2021 Public Library of Science ;2021 Olbrich et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Olbrich et al 2021 Olbrich et al ;ISSN: 1553-7374 ;ISSN: 1553-7366 ;EISSN: 1553-7374 ;DOI: 10.1371/journal.ppat.1010061 ;PMID: 34882748

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7
Gestational diabetes is associated with the risk of offspring’s congenital anomalies: a register-based cohort study
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Gestational diabetes is associated with the risk of offspring’s congenital anomalies: a register-based cohort study

BMC pregnancy and childbirth, 2023-10, Vol.23 (1), p.1-708, Article 708 [Peer Reviewed Journal]

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. ;BioMed Central Ltd., part of Springer Nature 2023 ;ISSN: 1471-2393 ;EISSN: 1471-2393 ;DOI: 10.1186/s12884-023-05996-6 ;PMID: 37789251

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8
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Genome medicine, 2019-05, Vol.11 (1), p.30-30, Article 30 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;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. ;The Author(s). 2019 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-019-0639-5 ;PMID: 31101064

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9
Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update
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Article
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Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update

Journal of clinical medicine, 2020-04, Vol.9 (4), p.1096 [Peer Reviewed Journal]

2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 by the authors. 2020 ;ISSN: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm9041096 ;PMID: 32290556

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10
Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight
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Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight

International journal of molecular sciences, 2021-10, Vol.22 (21), p.11495 [Peer Reviewed Journal]

2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms222111495 ;PMID: 34768925

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11
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
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Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Genes, 2021-05, Vol.12 (5), p.738 [Peer Reviewed Journal]

2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12050738 ;PMID: 34068396

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12
The Genomic Architecture of Bladder Exstrophy Epispadias Complex
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Article
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The Genomic Architecture of Bladder Exstrophy Epispadias Complex

Genes, 2021-07, Vol.12 (8), p.1149 [Peer Reviewed Journal]

2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12081149 ;PMID: 34440323

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13
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease
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Article
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

Genes, 2022-06, Vol.13 (7), p.1172 [Peer Reviewed Journal]

COPYRIGHT 2022 MDPI AG ;2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes13071172 ;PMID: 35885957

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14
Rare within Rare: A Girl with Severe Haemophilia A and Turner Syndrome
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Article
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Rare within Rare: A Girl with Severe Haemophilia A and Turner Syndrome

Journal of clinical medicine, 2023-11, Vol.12 (23), p.7437 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm12237437 ;PMID: 38068488

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15
Pulmonary placental transmogrification: a difficult pattern in differential diagnosis of pulmonary hamartomas from a tertiary care hospital in Turkey
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Article
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Pulmonary placental transmogrification: a difficult pattern in differential diagnosis of pulmonary hamartomas from a tertiary care hospital in Turkey

Journal of cardiothoracic surgery, 2023-04, Vol.18 (1), p.127-127, Article 127 [Peer Reviewed Journal]

2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;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: 1749-8090 ;EISSN: 1749-8090 ;DOI: 10.1186/s13019-023-02217-1 ;PMID: 37041644

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16
Aplastic Anemia in Triple X Syndrome
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Article
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Aplastic Anemia in Triple X Syndrome

Children (Basel), 2023-01, Vol.10 (1), p.100 [Peer Reviewed Journal]

2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 by the authors. 2023 ;ISSN: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children10010100 ;PMID: 36670650

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17
Organ Abnormalities Caused by Turner Syndrome
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Article
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Organ Abnormalities Caused by Turner Syndrome

Cells (Basel, Switzerland), 2023-05, Vol.12 (10), p.1365 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 by the authors. 2023 ;ISSN: 2073-4409 ;EISSN: 2073-4409 ;DOI: 10.3390/cells12101365 ;PMID: 37408200

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18
Hydrometrocolpos in Infants: Etiologies and Clinical Presentations
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Article
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Hydrometrocolpos in Infants: Etiologies and Clinical Presentations

Children (Basel), 2022-02, Vol.9 (2), p.219 [Peer Reviewed Journal]

2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children9020219 ;PMID: 35204939

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19
MicroRNA-4516 in Urinary Exosomes as a Biomarker of Premature Ovarian Insufficiency
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Article
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MicroRNA-4516 in Urinary Exosomes as a Biomarker of Premature Ovarian Insufficiency

Cells (Basel, Switzerland), 2022-09, Vol.11 (18), p.2797 [Peer Reviewed Journal]

COPYRIGHT 2022 MDPI AG ;2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 2073-4409 ;EISSN: 2073-4409 ;DOI: 10.3390/cells11182797

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20
Ultrasound Assessment of Larynx and Trachea in the Neonatal Period, Examination Standard with Predictive Values-Study Protocol
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Article
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Ultrasound Assessment of Larynx and Trachea in the Neonatal Period, Examination Standard with Predictive Values-Study Protocol

Diagnostics (Basel), 2023-04, Vol.13 (9), p.1578 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 by the authors. 2023 ;ISSN: 2075-4418 ;EISSN: 2075-4418 ;DOI: 10.3390/diagnostics13091578 ;PMID: 37174969

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