Works matching Cornelia
Results: 5000
Cornelia de Lange Sendromu ye Konjenital Umblikal Herni.
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- Journal of the Child / Çocuk Dergisi, 2013, v. 13, n. 1, p. 40, doi. 10.5222/j.child.2013.040
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- Article
Sindromul Cornelia de Lange.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2016, v. 19, n. 4, p. 55
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- Article
Cornelia de Lange 综合征首个国际共识的解读.
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- Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 8, p. 815, doi. 10.7499/j.issn.1008-8830.2002010
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- Article
Importancia de la adaptación del odontólogo de acuerdo con las necesidades de los pacientes: Síndrome de Cornelia de Lange, a propósito de dos casos clínicos.
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- Universitas Odontológica, 2019, v. 38, n. 81, p. 90, doi. 10.11144/Javeriana.uo38-81.iaon
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- Article
Sindrom Cornelia de Lange asociat cu anomalie congenitală de cord. Prezentare de caz.
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- Ginecologia.ro, 2015, v. 3, n. 9, p. 56
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- Article
Síndrome Cornelia de Lange: reporte de un caso.
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- Revista ANACEM, 2015, v. 8, n. 1, p. 36
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Síndrome Cornelia de Lange: reporte de un caso.
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- Revista ANACEM, 2014, v. 8, n. 2, p. 61
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- Article
Síndrome Cornelia de Lange: reporte de un caso.
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- Revista ANACEM, 2014, v. 8, n. 2, p. 61
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- Article
Hipernatremik Dehidratasyon Atakları ile Gelen Cornelia De Lange Sendromu.
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- Medical Journal of Bakirkoy, 2013, v. 9, n. 4, p. 186, doi. 10.5350/BTDMJB201309408
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- Article
Cornelia De Lange Sendromunda Göz Bulguları.
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- Journal of Glaucoma-Cataract / Glokom-Katarakt, 2007, v. 2, n. 2, p. 135
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- Article
Cornelia Gurlitt: vokiečių ekspresionistė Vilniuje Pirmojo pasaulinio karo metais.
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- Menotyra, 2022, v. 29, n. 2, p. 83
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- Article
Análise comparativa entre medições in situ e estimativas numéricas na Praia da Cornélia, Costa da Caparica, Portugal.
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- Journal of Integrated Coastal Zone Management / Revista de Gestão Costeira Integrada, 2012, v. 12, n. 2, p. 147, doi. 10.5894/rgci303
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- Article
Manejo odontológico en paciente con síndrome de Cornelia de Lange.
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- Revista ADM, 2023, v. 80, n. 5, p. 274, doi. 10.35366/113139
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- Article
L’INNEGABILE INFLUENZA SUI GRACCHI DELLA MADRE CORNELIA.
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- Anuario de la Facultad de Derecho de la Universidad de Alcalá, 2020, v. 13, p. 3
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- Article
SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.
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- Clinical & Biomedical Research, 2022, v. 42, n. 2, p. 66, doi. 10.22491/2357-9730.117215
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- Article
SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.
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- Clinical & Biomedical Research, 2022, v. 42, n. 1, p. 66, doi. 10.22491/2357-9730.117215
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- Article
Verosimilitud novelesca y falsedad histórica: el prólogo autoral a Cornelia Bororquia.
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- Acta Neophilologica, 2020, v. 53, n. 1/2, p. 217, doi. 10.4312/an.53.1-2.217-230
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- Article
Kornilia Preveziotou Tavaniotou'nun Kadın Dergisi İ Vosporis (İstanbul 1899-1906).
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- Kebikeç: İnsan Bilimleri İçin Kaynak Araştırmaları Dergisi, 2020, n. 50, p. 177
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- Article
Cornelia de lange syndrome and psoriasis: Report of a case.
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- 2018
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- Case Study
Cornelia de Lange syndrome associated with cecal volvulus: report of a case.
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- Acta Paediatrica, 2001, v. 90, n. 6, p. 701, doi. 10.1111/j.1651-2227.2001.tb02437.x
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- Article
Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 5, p. 1, doi. 10.1002/mgg3.2447
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Anesthetic management of a patient with Cornelia De Lange syndrome.
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- 2016
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- Case Study
A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.
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- Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 142, doi. 10.3390/diagnostics11010142
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- Article
Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.
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- Fetal & Pediatric Pathology, 2024, v. 43, n. 6, p. 477, doi. 10.1080/15513815.2024.2412847
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- Article
Neuroimaging features of Cornelia de Lange syndrome.
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- Pediatric Radiology, 2015, v. 45, n. 8, p. 1198, doi. 10.1007/s00247-015-3300-5
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Assessment and treatment of stereotypy in an individual with Cornelia de Lange syndrome and deafblindness.
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- Journal of Intellectual & Developmental Disability, 2014, v. 39, n. 4, p. 375, doi. 10.3109/13668250.2014.953464
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- Article
Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis.
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- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9269-x
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- Article
Disowning “Indianness”: Images of Indian Womanhood and the “English” Self of Cornelia Sorabji.
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- Prose Studies, 2015, v. 37, n. 1, p. 2, doi. 10.1080/01440357.2015.1056486
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Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome.
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- 2015
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- Case Study
Chromatinopathies: A focus on Cornelia de Lange syndrome.
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- Clinical Genetics, 2020, v. 97, n. 1, p. 3, doi. 10.1111/cge.13674
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- Article
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
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- Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
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- Article
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Castronovo et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 560, doi. 10.1111/j.1399-0004.2010.01408.x
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- Article
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
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Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.
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- 2016
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- journal article
Leigh's Disease with Clinical Manifestations of Cornelia de Lange Syndrome.
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- Pediatric Neurosurgery, 1991, v. 17, n. 4, p. 192, doi. 10.1159/000120594
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- Article
Синдром на Корнелия де Ланге - представяне на класически и некласически вариант.
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- Pediatria, 2020, v. 60, n. 4, p. 60
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Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes.
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- Journal of Intellectual Disability Research, 2020, v. 64, n. 2, p. 117, doi. 10.1111/jir.12702
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- Article
Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes.
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- Journal of Intellectual Disability Research, 2011, v. 55, n. 4, p. 397, doi. 10.1111/j.1365-2788.2011.01386.x
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Infant attentional behaviours as prognostic indicators in Cornelia-de-Lange syndrome.
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- Journal of Intellectual Disability Research, 2007, v. 51, n. 9, p. 697, doi. 10.1111/j.1365-2788.2007.00975.x
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- Article
The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.
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- Journal of Intellectual Disability Research, 2005, v. 49, n. 4, p. 269, doi. 10.1111/j.1365-2788.2005.00649.x
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- Article
Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome.
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- Journal of Intellectual Disability Research, 1997, v. 41, n. 1, p. 70, doi. 10.1111/j.1365-2788.1997.tb00678.x
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Unpredictable drug reaction in a child with Cornelia de Lange syndrome.
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- 2015
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- Report
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature.
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- 2014
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- Case Study
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
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- 2019
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- Case Study
Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report.
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- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00142-3
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- Article
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01454-3
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Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.
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- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 6, p. 2476, doi. 10.1007/s10803-019-03966-6
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- Article
My Grandparents Louis Burton Gibson, and Cornelia Adelaide Pettiford.
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- Journal of the Afro-American Historical & Genealogical Society, 2024, n. 41, p. 8
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- Article
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
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- 2021
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- Publication type:
- journal article
A case of third trimester diagnosis of Cornelia de Lange syndrome.
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- 2011
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- Publication type:
- journal article