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1
This Week in the Journal
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Article
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This Week in the Journal

The New England journal of medicine, 2024-05, Vol.390 (17), p.1548 [Peer Reviewed Journal]

Copyright © 2024 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMtwj240502

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2
Severe case of aplasia cutis congenita
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Article
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Severe case of aplasia cutis congenita

Archives of disease in childhood. Fetal and neonatal edition, 2024-04, p.fetalneonatal-2024-327067 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/archdischild-2024-327067 ;PMID: 38604652

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3
Lymphatic malformations: mechanistic insights and evolving therapeutic frontiers
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Article
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Lymphatic malformations: mechanistic insights and evolving therapeutic frontiers

The Journal of clinical investigation, 2024-03, Vol.134 (6), p.1-9 [Peer Reviewed Journal]

Copyright American Society for Clinical Investigation Mar 2024 ;ISSN: 0021-9738 ;ISSN: 1558-8238 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI172844

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4
Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses
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Article
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Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses

Journal of clinical pathology, 2024-04, p.jcp-2022-208686 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0021-9746 ;EISSN: 1472-4146 ;DOI: 10.1136/jcp-2022-208686 ;PMID: 38589208

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5
Lumbar Spinal Stenosis: Diagnosis and Management
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Article
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Lumbar Spinal Stenosis: Diagnosis and Management

American family physician, 2024-04, Vol.109 (4), p.350-359 [Peer Reviewed Journal]

2024. American Academy of Family Physicians ;ISSN: 0002-838X ;EISSN: 1532-0650 ;PMID: 38648834

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6
Increased enhancer-promoter interactions during developmental enhancer activation in mammals
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Article
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Increased enhancer-promoter interactions during developmental enhancer activation in mammals

Nature genetics, 2024-04, Vol.56 (4), p.675-3 [Peer Reviewed Journal]

2024. The Author(s), under exclusive licence to Springer Nature America, Inc. ;Copyright Nature Publishing Group Apr 2024 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-024-01681-2 ;PMID: 38509385

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7
Precision Medicine Approaches in Acute Myeloid Leukemia with Adverse Genetics
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Article
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Precision Medicine Approaches in Acute Myeloid Leukemia with Adverse Genetics

International journal of molecular sciences, 2024-04, Vol.25 (8), p.4259 [Peer Reviewed Journal]

2024 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: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms25084259 ;PMID: 38673842

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8
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
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Article
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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

The Journal of clinical investigation, 2024-02, Vol.134 (4), p.1-14 [Peer Reviewed Journal]

Copyright American Society for Clinical Investigation Feb 2024 ;2024 Szot et al. 2024 Szot et al. ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI174824 ;PMID: 38357931

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9
Clinical Relevance of Pathological Diagnosis of Hirschsprung's Disease with Acetylcholine-Esterase Histochemistry or Calretinin Immunohistochemistry
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Article
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Clinical Relevance of Pathological Diagnosis of Hirschsprung's Disease with Acetylcholine-Esterase Histochemistry or Calretinin Immunohistochemistry

Children (Basel), 2024-04, Vol.11 (4), p.428 [Peer Reviewed Journal]

2024 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: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children11040428 ;PMID: 38671645

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10
Chiari I Malformation and Intramedullary Hemorrhage in a female Patient with Klippel Trenaunay Syndrome: A Rare Case Report Study
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Article
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Chiari I Malformation and Intramedullary Hemorrhage in a female Patient with Klippel Trenaunay Syndrome: A Rare Case Report Study

International journal of caring sciences, 2024-04, Vol.17 (1), p.603-609 [Peer Reviewed Journal]

2024. This work is published under https://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: 1791-5201 ;EISSN: 1792-037X

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11
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
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Article
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Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene

Journal of medical genetics, 2024-04, p.jmg-2024-109846 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2024-109846 ;PMID: 38663984

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12
Surgical Proposition of a Slow-Growing Calvarial Exostosis in a Female Patient With a Congenital Iris Cyst of the Anterior Chamber and Mandibular Tori
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Article
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Surgical Proposition of a Slow-Growing Calvarial Exostosis in a Female Patient With a Congenital Iris Cyst of the Anterior Chamber and Mandibular Tori

Curēus (Palo Alto, CA), 2024-03, Vol.16 (3), p.e56642 [Peer Reviewed Journal]

Copyright © 2024, Behaeddin et al. ;Copyright © 2024, Behaeddin et al. This work is published under https://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: 2168-8184 ;EISSN: 2168-8184 ;DOI: 10.7759/cureus.56642 ;PMID: 38646370

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13
Clinical application of paediatric serum troponin T testing
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Article
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Clinical application of paediatric serum troponin T testing

Archives of disease in childhood, 2024-05, p.archdischild-2023-326719 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2023-326719

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14
Anorectal malformation and Hirschsprung’s disease: a cross-sectional multicentre comparison of quality of life and bowel function to a healthy population
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Article
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Anorectal malformation and Hirschsprung’s disease: a cross-sectional multicentre comparison of quality of life and bowel function to a healthy population

Archives of disease in childhood, 2024-04, p.archdischild-2023-326724 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2023-326724 ;PMID: 38649254

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15
Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura
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Article
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Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic Purpura

The New England journal of medicine, 2024-05, Vol.390 (17), p.1584-1596 [Peer Reviewed Journal]

Copyright © 2024 Massachusetts Medical Society. All rights reserved. ;Copyright © 2024 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa2314793 ;PMID: 38692292

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16
Engineered platforms for mimicking cardiac development and drug screening
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Article
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Engineered platforms for mimicking cardiac development and drug screening

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1) [Peer Reviewed Journal]

The Author(s) 2024 ;ISSN: 1420-682X ;EISSN: 1420-9071 ;DOI: 10.1007/s00018-024-05231-1

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17
Risk and time preferences in individuals with lifestyle-related and non-lifestyle-related cardiovascular diseases: a pilot study
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Article
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Risk and time preferences in individuals with lifestyle-related and non-lifestyle-related cardiovascular diseases: a pilot study

BMJ open, 2024-05, Vol.14 (5), p.e080867 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2023-080867

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18
Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational study
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Article
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Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational study

Archives of disease in childhood, 2024-04, p.archdischild-2024-326906 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2024-326906 ;PMID: 38589198

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19
Congenital Haemostasis Disorders and Urology Surgery: Is It Safe?
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Article
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Congenital Haemostasis Disorders and Urology Surgery: Is It Safe?

Journal of clinical medicine, 2024-04, Vol.13 (8), p.2357 [Peer Reviewed Journal]

2024 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/jcm13082357 ;PMID: 38673628

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20
Matching actions to needs: shifting policy responses to the changing health needs of Chinese children and adolescents
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Article
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Matching actions to needs: shifting policy responses to the changing health needs of Chinese children and adolescents

The Lancet (British edition), 2024-05, Vol.403 (10438), p.1808-1820 [Peer Reviewed Journal]

2024 Elsevier Ltd ;Copyright © 2024 Elsevier Ltd. All rights reserved, including those for text and data mining, AI training, and similar technologies. ;2024. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(23)02894-5 ;PMID: 38643776

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