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1
Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

Molecular biology reports, 2024-12, Vol.51 (1), p.577-577 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer Nature B.V. 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2024. The Author(s), under exclusive licence to Springer Nature B.V. ;ISSN: 0301-4851 ;EISSN: 1573-4978 ;DOI: 10.1007/s11033-024-09545-y ;PMID: 38664339

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2
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome
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Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.44-44 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1617-4615 ;EISSN: 1617-4623 ;DOI: 10.1007/s00438-024-02136-3 ;PMID: 38625590

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3
Fifteen-minute consultation: The prepubescent gender-diverse child: how to answer parents’ questions
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Fifteen-minute consultation: The prepubescent gender-diverse child: how to answer parents’ questions

Archives of disease in childhood. Education and practice edition, 2024-06, Vol.109 (3), p.106-111 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. 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: 1743-0585 ;EISSN: 1743-0593 ;DOI: 10.1136/archdischild-2023-325709 ;PMID: 37468164

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4
Risk Factors and Outcomes Associated with Gaps in Care in Children with Congenital Heart Disease
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Risk Factors and Outcomes Associated with Gaps in Care in Children with Congenital Heart Disease

Pediatric cardiology, 2024-06, Vol.45 (5), p.976-985 [Peer Reviewed Journal]

The Author(s) 2024 ;2024. The Author(s). ;ISSN: 0172-0643 ;EISSN: 1432-1971 ;DOI: 10.1007/s00246-024-03414-y ;PMID: 38485760

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5
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
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Article
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A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Journal of human genetics, 2024-06, Vol.69 (6), p.271-282 [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 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-024-01237-6 ;PMID: 38459225

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6
Impact of Habitual Yogurt Intake in Mother–Child Dyads on Incidence of Childhood Otitis Media: The Japan Environment and Children’s Study (JECS)
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Impact of Habitual Yogurt Intake in Mother–Child Dyads on Incidence of Childhood Otitis Media: The Japan Environment and Children’s Study (JECS)

Probiotics and antimicrobial proteins, 2024-06, Vol.16 (3), p.884-893 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. ;ISSN: 1867-1306 ;EISSN: 1867-1314 ;DOI: 10.1007/s12602-023-10086-2 ;PMID: 37195509

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7
Persistent Cutis Marmorata Telangiectatica Congenita Associated with Isolated Hemihypertrophy and Edema Attacks
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Article
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Persistent Cutis Marmorata Telangiectatica Congenita Associated with Isolated Hemihypertrophy and Edema Attacks

Clinical pediatrics, 2024-06, Vol.63 (5), p.617-619 [Peer Reviewed Journal]

The Author(s) 2023 ;ISSN: 0009-9228 ;EISSN: 1938-2707 ;DOI: 10.1177/00099228231187482 ;PMID: 37464812

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8
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, 2024-06, Vol.109 (6), p.510-514 [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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9
Maternal antenatal mental health and its associations with perinatal outcomes and the use of healthcare services in children from the NINFEA birth cohort study
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Article
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Maternal antenatal mental health and its associations with perinatal outcomes and the use of healthcare services in children from the NINFEA birth cohort study

European journal of pediatrics, 2024-06, Vol.183 (6), p.2769-2781 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-024-05525-3 ;PMID: 38564067

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10
Disease activity and neonatal outcomes after exposure to natalizumab throughout pregnancy
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Article
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Disease activity and neonatal outcomes after exposure to natalizumab throughout pregnancy

Journal of neurology, neurosurgery and psychiatry, 2024-06, Vol.95 (6), p.561-570 [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. ;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 ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2023-332804 ;PMID: 38124108

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11
Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients
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Article
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Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients

The Journal of craniofacial surgery, 2024-06, Vol.35 (4), p.1170 [Peer Reviewed Journal]

Copyright © 2024 by Mutaz B. Habal, MD. ;EISSN: 1536-3732 ;DOI: 10.1097/SCS.0000000000010057 ;PMID: 38385678

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12
CPAK classification cannot be used to determine segmental coronal extra‐articular knee deformity
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Article
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CPAK classification cannot be used to determine segmental coronal extra‐articular knee deformity

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2024-06, Vol.32 (6), p.1557-1570 [Peer Reviewed Journal]

2024 European Society of Sports Traumatology, Knee Surgery and Arthroscopy. ;ISSN: 0942-2056 ;EISSN: 1433-7347 ;DOI: 10.1002/ksa.12168 ;PMID: 38643399

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13
Pregnancy and cardiac maternal outcomes in women with inherited cardiomyopathy: interest of the CARPREG II risk score
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Article
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Pregnancy and cardiac maternal outcomes in women with inherited cardiomyopathy: interest of the CARPREG II risk score

ESC Heart Failure, 2024-06, Vol.11 (3), p.1506-1514 [Peer Reviewed Journal]

2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. ;2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2055-5822 ;EISSN: 2055-5822 ;DOI: 10.1002/ehf2.14694 ;PMID: 38361389

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14
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)
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Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)

Archives of gynecology and obstetrics, 2024-06, Vol.309 (6), p.2613-2622 [Peer Reviewed Journal]

The Author(s) 2023 ;2023. The Author(s). ;The Author(s) 2023. 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: 1432-0711 ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-023-07165-8 ;PMID: 37535131

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15
Breast size in lactating women and the content of macronutrients in human milk
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Article
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Breast size in lactating women and the content of macronutrients in human milk

American journal of human biology, 2024-06, Vol.36 (6), p.e24055 [Peer Reviewed Journal]

2024 Wiley Periodicals LLC. ;EISSN: 1520-6300 ;DOI: 10.1002/ajhb.24055 ;PMID: 38420902

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16
Impact of the operative technique on mid‐ and long‐term results following paediatric heart transplantation
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Article
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Impact of the operative technique on mid‐ and long‐term results following paediatric heart transplantation

ESC Heart Failure, 2024-06, Vol.11 (3), p.1602-1611 [Peer Reviewed Journal]

2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. ;2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2055-5822 ;EISSN: 2055-5822 ;DOI: 10.1002/ehf2.14718 ;PMID: 38378979

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17
HLA-haploidentical stem cell transplantation in children with inherited bone marrow failure syndromes: A retrospective analysis on behalf of EBMT severe aplastic Anemia and pediatric diseases working parties
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Article
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HLA-haploidentical stem cell transplantation in children with inherited bone marrow failure syndromes: A retrospective analysis on behalf of EBMT severe aplastic Anemia and pediatric diseases working parties

American journal of hematology, 2024-06, Vol.99 (6), p.1066 [Peer Reviewed Journal]

2024 The Authors. American Journal of Hematology published by Wiley Periodicals LLC. ;EISSN: 1096-8652 ;DOI: 10.1002/ajh.27293 ;PMID: 38497679

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18
Adult idiopathic bilateral occlusion of foramen of Monro: Systematic review with illustrative case
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Article
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Adult idiopathic bilateral occlusion of foramen of Monro: Systematic review with illustrative case

Clinical neurology and neurosurgery, 2024-06, Vol.241, p.108279-108279, Article 108279 [Peer Reviewed Journal]

2024 Elsevier B.V. ;Copyright © 2024 Elsevier B.V. All rights reserved. ;2024. Elsevier B.V. ;ISSN: 0303-8467 ;EISSN: 1872-6968 ;DOI: 10.1016/j.clineuro.2024.108279 ;PMID: 38640777

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19
Potential Association Between COVID-19 Vaccination and Facial Palsy: Three Cases With Neuroimaging Findings
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Article
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Potential Association Between COVID-19 Vaccination and Facial Palsy: Three Cases With Neuroimaging Findings

Ear, nose, & throat journal, 2024-06, Vol.103 (1_suppl), p.110S-114S [Peer Reviewed Journal]

The Author(s) 2022 ;The Author(s) 2022 2022 SAGE Publications ;ISSN: 0145-5613 ;EISSN: 1942-7522 ;DOI: 10.1177/01455613221113818 ;PMID: 35855585

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20
Assessment of the CLOT (children's likelihood of thrombosis) real-time risk prediction model of hospital-associated venous thromboembolism in children with congenital heart disease
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Assessment of the CLOT (children's likelihood of thrombosis) real-time risk prediction model of hospital-associated venous thromboembolism in children with congenital heart disease

The American heart journal, 2024-06, Vol.272, p.37-47 [Peer Reviewed Journal]

2024 The Author(s) ;Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved. ;2024. The Author(s) ;ISSN: 0002-8703 ;EISSN: 1097-6744 ;DOI: 10.1016/j.ahj.2024.03.012 ;PMID: 38521193

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