المؤلفون: Montero-Vázquez, Raúl Alberto, Méndez-Contreras, Claudia Marcela

المصدر: Case reports; Vol. 10 No. 1 (2024) ; Case reports; Vol. 10 Núm. 1 (2024) ; Case reports; v. 10 n. 1 (2024) ; 2462-8522

مصطلحات موضوعية: Malformaciones del Sistema Nervioso, Agenesia del Cuerpo Calloso, Tetralogía de Fallot, Anomalías Craneofaciales, Megalencefalia, Hidrocefalia, Cadherinas, enfermedad Huérfana, Enfermedad congénita, Anomalías congénitas, Nervous System Malformations, Agenesis of Corpus Callosum, Tetralogy of Fallot, Craniofacial Abnormalities, Megalencephaly, Hydrocephalus, Cadherins, Orphan Disease, Congenital anomalies, Congenital disorders

جغرافية الموضوع: México

وصف الملف: application/pdf; text/html

العلاقة: https://revistas.unal.edu.co/index.php/care/article/view/102660/92404Test; https://revistas.unal.edu.co/index.php/care/article/view/102660/92405Test; https://revistas.unal.edu.co/index.php/care/article/view/102660Test

الإتاحة: https://revistas.unal.edu.co/index.php/care/article/view/102660Test

المؤلفون: Priolo, Manuela, Schanze, Denny, Tatton-Brown, Katrin, Mulder, Paul A, Tenorio, Jair, Kooblall, Kreepa, Hernández Acero, Inés, Alkuraya, Fowzan S, Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K, Cole, Trevor, Coubes, Christine, Dapía, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H, Fahrner, Jill A, Foster, Alison, García González, Noelia, Huber, Ilka, Iascone, Maria, Kaiser, Ann-Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M, Mammì, Corrado, Mathijssen, Inge B, McKee, Shane, Menke, Leonie A, Mirzaa, Ghayda M, Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E, Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S, Price, Sue, Salter, Claire, Santos-Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw-Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M, Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V, Zenker, Martin, Hennekam, Raoul C

المصدر: Human Mutation 2018; 39(9):1226-1237

مصطلحات موضوعية: Anomalías Múltiples, Adolescente, Adulto, Enfermedades del Desarrollo Óseo, Niño, Preescolar, Deleción Cromosómica, Hipotiroidismo Congénito, Anomalías Craneofaciales, Discapacidades del Desarrollo, Exones, Femenino, Deformidades Congénitas de la Mano, Humanos, Discapacidad Intelectual, Masculino, Megalencefalia, Mutación Missense, Factores de Transcripción NFI, Fenotipo, Displasia Septo-Óptica, Síndrome de Sotos, Adulto Joven

وصف الملف: pdf

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; datasets; Human mutation; http://sgc.anlis.gob.ar/handle/123456789/1977Test

الإتاحة: https://doi.org/10.1002/humu.23563Test
http://sgc.anlis.gob.ar/handle/123456789/1977Test

المؤلفون: Oliveira, Hélio Araújo, Machado, Marbene Guedes, Jesus, Alan Chester Feitosa de, Oliveira, Emanoella Faro de, Oliveira, Arthur Maynart Pereira

المصدر: Arquivos de Neuro-Psiquiatria. December 2004 62(4)

مصطلحات موضوعية: leucoencefalopatia, megalencefalia, substância branca evanescente, síndrome de van der Knaap

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2004000600023Test

المؤلفون: Hélio Araújo Oliveira, Marbene Guedes Machado, Alan Chester Feitosa de Jesus, Emanoella Faro de Oliveira, Arthur Maynart Pereira Oliveira

المصدر: Arquivos de Neuro-Psiquiatria, Vol 62, Iss 4, Pp 1058-1062 (2004)

مصطلحات موضوعية: leucoencefalopatia, megalencefalia, substância branca evanescente, síndrome de van der Knaap, leukoencephalopathy, megalencephaly, vanishing white matter, van der Knaap syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2004000600023Test; https://doaj.org/toc/0004-282XTest; https://doaj.org/toc/1678-4227Test

الوصول الحر: https://doaj.org/article/ee075e3d1ba448a686711cd96a5a1802Test

المؤلفون: CAVALCANTI, CARLOS EDUARDO, NOGUEIRA, ADELMAN

المصدر: Arquivos de Neuro-Psiquiatria. March 2000 58(1)

مصطلحات موضوعية: síndrome de Van der Knaap, megalencefalia, degeneração esponjosa, substância branca

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000100024Test

المؤلفون: Fernandes, Agostinho, Robalo, Conceição, Fineza, Isabel, Borges, Luís, Vilarinho, Laura, T. Almeida, Isabel, Velho, Sérgio, Diogo, Luísa

المصدر: Portuguese Journal of Pediatrics; Vol. 30 No. 1 (1999); Pag. 65-69 ; Portuguese Journal of Pediatrics; Vol. 30 N.º 1 (1999); Pag. 65-69 ; 2184-4453 ; 2184-3333

مصطلحات موضوعية: Macrocefalia, Megalencefalia, Erros inatos do metabolismo, Acidúria glutárica I

وصف الملف: application/pdf

العلاقة: https://ojs.pjp.spp.pt/article/view/5432/4192Test; https://ojs.pjp.spp.pt/article/view/5432Test

الإتاحة: https://ojs.pjp.spp.pt/article/view/5432Test

المؤلفون: Agostinho Fernandes, Conceição Robalo, Isabel Fineza, Luís Borges, Laura Vilarinho, Isabel T. Almeida, Sérgio Velho, Luísa Diogo

المصدر: Portuguese Journal of Pediatrics, Vol 30, Iss 1 (2014)

مصطلحات موضوعية: Macrocefalia, Megalencefalia, Erros inatos do metabolismo, Acidúria glutárica I, Pediatrics, RJ1-570, Medicine (General), R5-920

العلاقة: https://pjp.spp.pt//article/view/5432Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/2569829a8f13487585b103b868e31002Test

الإتاحة: https://doi.org/10.25754/pjp.1999.5432Test
https://doaj.org/article/2569829a8f13487585b103b868e31002Test

المؤلفون: Sousa, SB, Ramos, F, Garcia, P, Pais, RP, Paiva, C, Beales, PL, Moore, GE, Saraiva, JM, Hennekam, RC

مصطلحات موضوعية: Cerebelo, Perturbações do Desenvolvimento, Ossos Faciais, Deficiência Intelectual, Megalencefalia, Malformações do Sistema Nervoso, Irmãos

العلاقة: Am J Med Genet A. 2014 Jan;164A(1):10-4.; http://hdl.handle.net/10400.4/1925Test

الإتاحة: http://hdl.handle.net/10400.4/1925Test

المؤلفون: CARLOS EDUARDO CAVALCANTI, ADELMAN NOGUEIRA

المصدر: Arquivos de Neuro-Psiquiatria, Vol 58, Iss 1, Pp 157-161 (2000)

مصطلحات موضوعية: síndrome de Van der Knaap, megalencefalia, degeneração esponjosa, substância branca, Van der Knaap syndrome, megalencephaly, spongy degeneration, white matter, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000100024Test; https://doaj.org/toc/0004-282XTest; https://doaj.org/toc/1678-4227Test

الوصول الحر: https://doaj.org/article/1359f92dd2c8477c8aceb28766ed1a4aTest

المؤلفون: Catarina Paiva, Gudrun E. Moore, Paula Garcia, Rui Pedro Pais, Sérgio B. Sousa, Jorge M. Saraiva, Philip L. Beales, Raoul C.M. Hennekam, Fabiana Ramos

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics

المصدر: American journal of medical genetics. Part A, 164AA(1), 10-14. Wiley-Liss Inc.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinodactyly, Ataxia, Malformações do Sistema Nervoso, Developmental Disabilities, Pontocerebellar hypoplasia, Nervous System Malformations, Short stature, Facial Bones, Consanguinity, Young Adult, Camptodactyly, Cerebellum, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Megalencephaly, Child, Genetics (clinical), Perturbações do Desenvolvimento, business.industry, Coarse facial features, Siblings, Ossos Faciais, Deficiência Intelectual, Skull, Brain, Facies, Irmãos, Megalencefalia, Syndrome, medicine.disease, Magnetic Resonance Imaging, Pedigree, Radiography, Phenotype, Female, medicine.symptom, business, Hand Deformities, Congenital, Cerebelo

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40bf1fb95b798b78aa8fc28969c443d5Test
https://doi.org/10.1002/ajmg.a.36235Test