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1
Severe case of aplasia cutis congenita
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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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2
Lymphatic malformations: mechanistic insights and evolving therapeutic frontiers
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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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3
Systematic reanalysis of copy number losses of uncertain clinical significance
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Systematic reanalysis of copy number losses of uncertain clinical significance

Journal of medical genetics, 2024-04, p.jmg-2023-109559 [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: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2023-109559 ;PMID: 38604752

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

Archives of disease in childhood. Fetal and neonatal edition, 2024-04, p.fetalneonatal-2024-327076 [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-2024-327076 ;PMID: 38636982

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6
Newborn Skin: Part I. Common Rashes and Skin Changes
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Newborn Skin: Part I. Common Rashes and Skin Changes

American family physician, 2024-03, Vol.109 (3), p.212-216 [Peer Reviewed Journal]

2024. American Academy of Family Physicians ;ISSN: 0002-838X ;EISSN: 1532-0650 ;PMID: 38574210

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7
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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8
Effect of gestational age on cerebral lesions in neonatal encephalopathy
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Effect of gestational age on cerebral lesions in neonatal encephalopathy

Archives of disease in childhood. Fetal and neonatal edition, 2024-02, p.fetalneonatal-2023-326131 [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-2023-326131 ;PMID: 38418209

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9
Increased enhancer-promoter interactions during developmental enhancer activation in mammals
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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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10
Chiari I Malformation and Intramedullary Hemorrhage in a female Patient with Klippel Trenaunay Syndrome: A Rare Case Report Study
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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
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Nature communications, 2024-02, Vol.15 (1), p.1227-1227 [Peer Reviewed Journal]

2024. The Author(s). ;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. ;The Author(s) 2024 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-024-45099-0 ;PMID: 38418480

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12
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
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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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13
Pathophysiology, Diagnosis and Management of Cataract
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Article
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Pathophysiology, Diagnosis and Management of Cataract

Asian Journal of Pharmaceutical Research, 2024-03, Vol.14 (1)

Copyright 2024 A & V Publication, distributed by Contify.com ;ISSN: 2231-5683 ;EISSN: 2231-5691

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14
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
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Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation

Journal of medical genetics, 2024-02, p.jmg-2023-109786 [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: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2023-109786 ;PMID: 38413182

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15
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 ;PMID: 38719347

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16
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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17
Congenital Perisylvian Syndrome: Magnetic Resonance Imaging Findings in Six Cases
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Article
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Congenital Perisylvian Syndrome: Magnetic Resonance Imaging Findings in Six Cases

JK science : journal of medical education and research, 2024-04, Vol.26 (2), p.126-129 [Peer Reviewed Journal]

Copyright JK Science, Journal of Medical Education & Research Apr-Jun 2024 ;ISSN: 0972-1177

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18
The impact of isolated obesity compared with obesity and other risk factors on risk of stillbirth: a retrospective cohort study
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Article
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The impact of isolated obesity compared with obesity and other risk factors on risk of stillbirth: a retrospective cohort study

Canadian Medical Association journal (CMAJ), 2024-03, Vol.196 (8), p.E250-E259 [Peer Reviewed Journal]

2024 CMA Impact Inc. or its licensors. ;COPYRIGHT 2024 CMA Impact Inc. ;Copyright CMA Impact, Inc. Mar 4, 2024 ;2024 CMA Impact Inc. or its licensors 2024 ;ISSN: 0820-3946 ;EISSN: 1488-2329 ;DOI: 10.1503/cmaj.221450 ;PMID: 38438153

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19
The SGLT family—sodium‐glucose transporters with roles beyond glucose and the kidney
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Article
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The SGLT family—sodium‐glucose transporters with roles beyond glucose and the kidney

Journal of cellular and molecular medicine, 2024-03, Vol.28 (6), p.e18152-n/a [Peer Reviewed Journal]

2024 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.18152 ;PMID: 38445802

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20
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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