المؤلفون: Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R., Whiffin, N.

مصطلحات موضوعية: 5' Untranslated Regions, Child, Cohort Studies, DNA Copy Number Variations, Developmental Disabilities/*etiology/pathology, Genetic Predisposition to Disease, Humans, Loss of Function Mutation, MEF2 Transcription Factors/genetics, Whole Exome Sequencing, developmental disorders, clinical genetic testing, non-coding region variants, 5', UTR variants

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00184-1; Wright, C. F., Quaife, N. M., Ramos-Hernández, L., Danecek, P., Ferla, M. P., Samocha, K. E., Kaplanis, J., Gardner, E. J., Eberhardt, R. Y., Chao, K. R., Karczewski, K. J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S. A., Morton, J. E. V., Pinz, H., Sansbury, F. H., Stewart, H., Zuccarelli, B. D., Cook, S. A., Taylor, J. C., Juusola, J., Retterer, K., Firth, H. V., Hurles, M. E., Lara-Pezzi, E., Barton, P. J. R. and Whiffin, N. (2021) 'Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms', American Journal of Human Genetics, 108(6), pp. 1083-1094.; American Journal of Human Genetics; PMC8206381; https://hdl.handle.net/11287/621979

الاتاحة: https://hdl.handle.net/11287/621979
https://doi.org/10.1016/j.ajhg.2021.04.025

المساهمون: Mohammed Ahmed Hussein, Taeyong Woo, In Sik Yun, Hanna Park, Yong Oock Kim, Kim, Yong Oock, Woo, Tae Yong, Yun, In Sik

مصطلحات موضوعية: Child, Preschool, Developmental Disabilities/etiology, Female, Humans, Infant, Male, Plagiocephaly, Nonsynostotic/complications, Retrospective Studies, Severity of Illness Index, Brachycephaly, Deformational plagiocephaly, Neurodevelopmental delay, The mental development index

Relation: JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY; J01714; OAK-2018-04887; https://ir.ymlib.yonsei.ac.kr/handle/22282913/165269; https://www.sciencedirect.com/science/article/pii/S1748681517303418; T201803747; JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY, Vol.71(1) : 112-117, 2018; 58683

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/165269
https://doi.org/10.1016/j.bjps.2017.08.015
https://www.sciencedirect.com/science/article/pii/S1748681517303418

المؤلفون: Pierrat, Veronique, Marchand-Martin, Laetitia, Arnaud, Catherine, Kaminski, Monique, Resche-Rigon, Matthieu, Lebeaux, Cecile, Bodeau-Livinec, Florence, Morgan, Andrei, S, Goffinet, François, Marret, Stéphane, Ancel, Pierre-Yves

المساهمون: Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153), Université Paris Descartes - Paris 5 (UPD5)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Lille (CHU de Lille), Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de l'information médicale et de la biostatistique AP-HP Hôpital Saint-Louis, Hopital Saint-Louis AP-HP (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département Méthodes quantitatives en santé publique (METIS), École des Hautes Études en Santé Publique EHESP (EHESP), DHU Risques Et Grossesse, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie Néonatale et Réanimation – Neuropédiatrie CHU Rouen, Hôpital Charles Nicolle Rouen, CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CIC - Mère Enfant Necker Cochin Paris Centre (CIC 1419), Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), This project has been funded with support from the following organisations: The French Institute of Public Health Research/Institute of Public Health and its partners: the French Health Ministry, the National Institute of Health and Medical Research (INSERM), the National Institute of Cancer, and the National Solidarity Fund for Autonomy (CNSA), The National Research Agency through the French EQUIPEX program of investments in the future (reference ANR-11-EQPX-0038), the PREMUP Foundation, Fondation de France (reference 00050329), and Fondation pour la Recherche Médicale (reference SPF20160936356)., ANR-11-EQPX-0038,RE-CO-NAI,Plateforme de REcherche sur les COhortes d'enfants suivis depuis la NAIssance(2011)

المصدر: ISSN: 0959-8138.

مصطلحات موضوعية: MESH: Blindness/epidemiology, Blindness/etiology, Cerebral Palsy/epidemiology, Cerebral Palsy/etiology, Child, Preschool, Developmental Disabilities/epidemiology, Developmental Disabilities/etiology, Female, Follow-Up Studies, France/epidemiology, Gestational Age, Hearing Loss/epidemiology, Hearing Loss/etiology, Humans, Infant, Extremely Premature, Premature, Diseases/epidemiology, Diseases/mortality, Diseases/physiopathology, Male, Outcome Assessment (Health Care), Prospective Studies, Survivors, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

Relation: info:eu-repo/semantics/altIdentifier/pmid/28814566; PRODINRA: 492360; PUBMED: 28814566

الاتاحة: https://inserm.hal.science/inserm-01610207
https://inserm.hal.science/inserm-01610207v1/document
https://inserm.hal.science/inserm-01610207v1/file/bmj.j3448.full.pdf
https://doi.org/10.1136/bmj.j3448

المساهمون: College of Medicine, Dept. of Rehabilitation Medicine, Ja Young Choi, Dong-wook Rha, Eun Sook Park, Rha, Dong Wook, Park, Eun Sook, Choi, Ja Young

مصطلحات موضوعية: Adolescent, Adult, Brain/diagnostic imaging, Child, Child Behavior, Cognition Disorders/diagnosis, Cognition Disorders/diagnostic imaging, Cognition Disorders/etiology, Developmental Disabilities/diagnostic imaging, Developmental Disabilities/etiology, Epilepsy/etiology, Female, Gestational Age, Humans, Image Processing, Computer-Assisted, Leukomalacia, Periventricular/diagnostic imaging, Periventricular/etiology, Logistic Models, Magnetic Resonance Imaging, Male, Neurologic Examination, Neuropsychological Tests, Outcome Assessment (Health Care), Premature Birth/physiopathology, Premature Birth/psychology, Social Behavior, Young Adult, intellectual ability

وصف الملف: 603~612

Relation: JOURNAL OF CHILD NEUROLOGY; J01311; OAK-2016-01341; https://ir.ymlib.yonsei.ac.kr/handle/22282913/146552; http://jcn.sagepub.com/content/31/5/603; T201600872; JOURNAL OF CHILD NEUROLOGY, Vol.31(5) : 603-612, 2016

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/146552
https://doi.org/10.1177/0883073815604229
http://jcn.sagepub.com/content/31/5/603

المؤلفون: Haller, Sebastian, Deindl, Philipp, Cassini, Alessandro, Suetens, Carl, Zingg, Walter, Abu Sin, Muna, Velasco, Edward, Weiss, Bettina, Ducomble, Tanja, Sixtensson, Madlen, Eckmanns, Tim, Harder, Thomas

المصدر: ISSN: 1025-496X ; Euro surveillance, vol. 21, no. 8 (2016.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Cerebral Palsy/etiology, Child Development, Cross Infection, Developmental Disabilities/etiology, Female, Humans, Infant, Newborn, Very Low Birth Weight/growth & development, Male, Neurodevelopmental Disorders/etiology, Quality-Adjusted Life Years, Sepsis/complications

Relation: info:eu-repo/semantics/altIdentifier/pmid/26940884; https://archive-ouverte.unige.ch/unige:87638; unige:87638

الاتاحة: https://archive-ouverte.unige.ch/unige:87638

المؤلفون: Mölholm Hansen, Bo, Greisen, Gorm

المصدر: Månedsskrift for Almen Praksis. 90(8):591

المساهمون: Soyong Eom, Breanne Fisher, Catherine Dezort, Anne T Berg, Eom, So Yong

المصدر: T201406136.pdf

مصطلحات موضوعية: Adolescent, Autistic Disorder/diagnosis, Autistic Disorder/etiology, Child, Child Behavior Disorders/diagnosis, Child Behavior Disorders/etiology, Preschool, Cognitive Dysfunction/diagnosis, Cognitive Dysfunction/etiology, Developmental Disabilities/diagnosis, Developmental Disabilities/etiology, Epilepsy/complications, Epilepsy/psychology, Female, Humans, Male, Mass Screening, Referral and Consultation, Reproducibility of Results, Surveys and Questionnaires

وصف الملف: 1100~1105

Relation: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY; J00716; OAK-2014-03320; https://ir.ymlib.yonsei.ac.kr/handle/22282913/139053; T201406136; DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, Vol.56(11) : 1100-1105, 2014

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/139053
https://doi.org/10.1111/dmcn.12497

المؤلفون: Evensen, Kari Anne Indredavik

المصدر: Fysioterapeuten. 78(4):20

المؤلفون: Moon, Karam, Ducruet, Andrew F, Crowley, R Webster, Klas, Kathleen, Bristol, Ruth, Albuquerque, Felipe C

المصدر: Translational Neuroscience

مصطلحات موضوعية: Adolescent, Angiography, Digital Subtraction, Balloon Occlusion, Central Nervous System Vascular Malformations (complications, diagnostic imaging, therapy), Chemoembolization, Therapeutic (methods), Developmental Disabilities (etiology), Diagnosis, Differential, Drug Combinations, Embolization, Female, Genetic Testing, Hamartoma Syndrome, Multiple (complications, Humans, Magnetic Resonance Imaging, Megalencephaly (complications), Mutation, PTEN Phosphohydrolase (genetics), Polyvinyls (administration & dosage), Tantalum (administration & dosage)

Relation: https://scholar.barrowneuro.org/neurobiology/2072

الاتاحة: https://scholar.barrowneuro.org/neurobiology/2072

المؤلفون: Lier, L

المصدر: Medicinsk Årbog. :87

المساهمون: Kim H., Yoon J.H., Lee J.E., Baek E.J., Sohn Y.H., Na D.L., Sohn, Young Ho, Lee, Ji Eun, Kim, Hyang Hee

مصطلحات موضوعية: Adolescent, Age Factors, Alzheimer Disease/complications, Case-Control Studies, Child, Preschool, Cognition Disorders/diagnosis, Cognition Disorders/etiology, Developmental Disabilities/etiology, Female, Humans, Linguistics, Male, Names, Neuropsychological Tests, Regression Analysis, Severity of Illness Index, Verbal Learning/physiology, Vocabulary, Confrontation naming, Elderly, Alzheimer�셲 disease, Children, Retrogenesis

وصف الملف: 195~199

Relation: EUROPEAN NEUROLOGY; J00849; OAK-2011-01094; https://ir.ymlib.yonsei.ac.kr/handle/22282913/93620; http://www.karger.com/?DOI=10.1159/000331172; T201102699; EUROPEAN NEUROLOGY, Vol.66(4) : 195-199, 2011

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/93620
https://doi.org/10.1159/000331172
http://www.karger.com/?DOI=10.1159/000331172

المساهمون: Jeong Tae Kim, Yun Jin Lee, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim, Kang, Hoon Chul, Kim, Heung Dong, Lee, Young Mock, Lee, Yun Jin, Lee, Joon Soo

مصطلحات موضوعية: Acidosis, Lactic/etiology, Adolescent, Brain/metabolism, Brain/pathology, Child, Preschool, Developmental Disabilities/etiology, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Mitochondrial Diseases/complications, Mitochondrial Diseases/metabolism, Mitochondrial Diseases/pathology, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Muscles/metabolism, Muscles/pathology, Retrospective Studies, Seizures/etiology, Young Adult, Mitochondria, Neuromuscular system, Respiratory chain complex

وصف الملف: 1825~1829

Relation: ACTA PAEDIATRICA; J00029; OAK-2009-01564; https://ir.ymlib.yonsei.ac.kr/handle/22282913/104904; T200903324; ACTA PAEDIATRICA, Vol.98(11) : 1825-1829, 2009

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/104904
https://doi.org/10.1111/j.1651-2227.2009.01428.x
http://onlinelibrary.wiley.com/doi/10.1111/j.1651-2227.2009.01428.x/abstract

المؤلفون: Gygax Marine, Jequier, Roulet-Perez, Eliane, Meagher-Villemure, Kathleen, Jakobs, Cornelis, Salomons Gajja, S., Boulat, Olivier, Superti-Furga, Andrea, Ballhausen, Diana, Bonafe, Luisa

المصدر: European Journal of Pediatrics, vol. 168, no. 8, pp. 957-962

مصطلحات موضوعية: Brain Diseases, Metabolic, Inborn/complications, Inborn/drug therapy, Child, Death, Sudden/etiology, Sudden/pathology, Developmental Disabilities/etiology, Family Health, Female, Glutarates/urine, Humans, Infant, Magnetic Resonance Imaging, Sudden Infant Death/etiology, Sudden Infant Death/pathology

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/19005678; info:eu-repo/semantics/altIdentifier/pissn/1432-1076[electronic]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E40482F93A015; https://serval.unil.ch/notice/serval:BIB_E40482F93A01; https://serval.unil.ch/resource/serval:BIB_E40482F93A01.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E40482F93A01
https://doi.org/10.1007/s00431-008-0869-9
https://serval.unil.ch/resource/serval:BIB_E40482F93A01.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E40482F93A015

المؤلفون: Finnström, O

المصدر: Läkartidningen. 102(49):3774

المؤلفون: Fernell, E

المصدر: Läkartidningen. 102(49):3373

المؤلفون: Gustavson, K H

المصدر: Läkartidningen. 100(47):3867

المؤلفون: Johansson, I

المصدر: Barnbladet. 28(1):9

المؤلفون: Kapellou, O., Counsell, S. J., Kennea, N., Dyet, L., Saeed, N., Stark, J., Maalouf, E., Duggan, P., Ajayi-Obe, M., Hajnal, J., Allsop, J. M., Boardman, J., Rutherford, M. A., Cowan, F., Edwards, A. D.

المصدر: Kapellou , O , Counsell , S J , Kennea , N , Dyet , L , Saeed , N , Stark , J , Maalouf , E , Duggan , P , Ajayi-Obe , M , Hajnal , J , Allsop , J M , Boardman , J , Rutherford , M A , Cowan , F & Edwards , A D 2006 , ' Abnormal cortical development after premature birth shown by altered allometric scaling of brain growth ' , PL o S Medicine , vol. 3 , no. 8 , pp. e265 . https://doi.org/10.1371/journal.pmed.0030265

مصطلحات موضوعية: Biometry Brain/anatomy & histology/*growth & development Cerebral Cortex/anatomy & histology/*growth & development Cohort Studies Developmental Disabilities/*etiology Female Gestational Age Humans Infant, Newborn *Infant, Premature Magnetic Resonance Imaging Male Models, Neurological Sex Factors

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/e282ef92-234f-4138-ab9e-9eea43c7ffb1
https://doi.org/10.1371/journal.pmed.0030265
http://www.ncbi.nlm.nih.gov/pubmed/16866579

المؤلفون: Sandbu, S, Slördahl, S H, Oberger, E, Aanesen, J P

المصدر: Tidsskrift for Den Norske Laegeforening. 112(24):3083

المؤلفون: Berg, I, Finnström, O, Nygren, K G

المصدر: Läkartidningen. 98(38):4020