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Paciente con anomalía de Ebstein y síndrome de Down. Una extraña combinación.
- Published in:
- Acta Pediatrica de Mexico, 2014, v. 35, n. 3, p. 218
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- Publication type:
- Article
Candidate Selection, Personalization and Different Logics of Centralization in New Southern European Populism: The Cases of Podemos and the M5S.
- Published in:
- Government & Opposition, 2022, v. 57, n. 3, p. 404, doi. 10.1017/gov.2021.9
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- Publication type:
- Article
Costello syndrome: clinical diagnosis in the first year of life.
- Published in:
- 2008
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- Publication type:
- journal article
Familial recurrence of congenital heart disease: an overview and review of the literature.
- Published in:
- 2007
- By:
- Publication type:
- journal article
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
- Published in:
- 2006
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- Publication type:
- journal article
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
- Published in:
- 2002
- By:
- Publication type:
- research
Lipomatous apocrine mixed tumor of the skin: an unusual giant lesion occurring in the breast.
- Published in:
- Journal of Cutaneous Pathology, 2009, v. 36, n. 6, p. 692, doi. 10.1111/j.1600-0560.2008.01104.x
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- Publication type:
- Article
Social cognition and real‐life functioning in patient samples with 22q11.2 deletion syndrome with or without psychosis, compared to a large sample of patients with schizophrenia only and healthy controls.
- Published in:
- Journal of Neuropsychology, 2023, v. 17, n. 3, p. 564, doi. 10.1111/jnp.12322
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- Publication type:
- Article
Isolated Cleft of the Mitral Valve: Its Pathogenic Relationship with Endocardial Cushion Defects.
- Published in:
- 2010
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- Publication type:
- Letter
The mendelian basis of congenital heart defects.
- Published in:
- Cardiology in the Young, 1996, v. 6, n. 4, p. 264, doi. 10.1017/S1047951100003887
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- Publication type:
- Article
Atrioventricular septal defect—anatomic characteristics in patients with and without Down's syndrome.
- Published in:
- Cardiology in the Young, 1992, v. 2, n. 4, p. 308, doi. 10.1017/S1047951100007861
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- Publication type:
- Article
Atrioventricular septal defects with severe left ventricular hypoplasia—clinical findings and surgical options.
- Published in:
- Cardiology in the Young, 1992, v. 2, n. 1, p. 53, doi. 10.1017/S1047951100000585
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- Publication type:
- Article
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes—A report of 74 cases with systematic review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2351, doi. 10.1002/ajmg.a.62763
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- Publication type:
- Article
Congenital heart defects in molecularly confirmed KBG syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1149, doi. 10.1002/ajmg.a.62632
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- Publication type:
- Article
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2003, doi. 10.1002/ajmg.a.62196
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- Publication type:
- Article
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1342, doi. 10.1002/ajmg.a.61586
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- Publication type:
- Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
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- Publication type:
- Article
Familial aggregation of "apple peel" intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1570, doi. 10.1002/ajmg.a.61195
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- Publication type:
- Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2087, doi. 10.1002/ajmg.a.38662
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- Publication type:
- Article
Congenital heart defects in molecularly proven Kabuki syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2912, doi. 10.1002/ajmg.a.38417
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- Publication type:
- Article
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 661, doi. 10.1002/ajmg.a.37503
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- Publication type:
- Article
Cardiovascular malformations in Adams-Oliver syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1175, doi. 10.1002/ajmg.a.36764
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- Publication type:
- Article
Hypoplastic left heart syndrome and 21q22.3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 579, doi. 10.1002/ajmg.a.36914
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- Publication type:
- Article
Challenges of classifying double outlet right ventricle: Importance for genotype-phenotype analyses.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1340, doi. 10.1002/ajmg.a.36448
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- Publication type:
- Article
JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3133, doi. 10.1002/ajmg.a.36148
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- Publication type:
- Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
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- Publication type:
- Article
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 365, doi. 10.1038/81695
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- Publication type:
- Article
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
- Published in:
- Nature Genetics, 2000, v. 24, n. 3, p. 283, doi. 10.1038/73508
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- Publication type:
- Article
Laterality, heterotaxy, and isolated congenital heart defects: The genetic basis of the segmental nature of the heart.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01375-8
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- Publication type:
- Article
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
- Published in:
- Cardiology in the Young, 2013, v. 23, n. 1, p. 14, doi. 10.1017/S1047951112000194
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- Publication type:
- Article
New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.
- Published in:
- Cardiology in the Young, 2009, v. 19, n. 6, p. 563, doi. 10.1017/S1047951109990837
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- Publication type:
- Article
Re: Atrioventricular septal defect with common atrioventricular junction, common arterial trunk and severe coartation of the aorta in a patient with Down's syndrome.
- Published in:
- 2007
- By:
- Publication type:
- commentary
Letter to the Editor.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Types of cardiac defects in children with Down's syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Maria Victoria de la Cruz, 1916–1999.
- Published in:
- Cardiology in the Young, 2000, v. 10, n. 6, p. 670, doi. 10.1017/S104795110000901X
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- Publication type:
- Article
Echocardiographic diagnosis of totally anomalous pulmonary venous connection to the azygos vein.
- Published in:
- Cardiology in the Young, 1999, v. 9, n. 3, p. 305, doi. 10.1017/S1047951100004984
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- Publication type:
- Article
Pulmonary arteriovenous fistulas in patients with left isomerism and cardiac malformations.
- Published in:
- 1998
- By:
- Publication type:
- commentary
Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Renal Cortical Perfusion, Measured by Superb Microvascular Imaging, during Infusion of Norepinephrine in Experimental Cardiopulmonary Bypass.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Stable carbon isotopic composition of carbonate in Holocene grassland soils
- Published in:
- Soil Science Society of America Journal, 1991, v. 55, n. 6, p. 1651
- By:
- Publication type:
- Article
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
- Published in:
- Human Genetics, 2016, v. 135, n. 3, p. 273, doi. 10.1007/s00439-015-1623-9
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- Publication type:
- Article
Differential responses of cerebral and renal oxygenation to altered perfusion conditions during experimental cardiopulmonary bypass in sheep.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2024, v. 51, n. 4, p. 1, doi. 10.1111/1440-1681.13852
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- Publication type:
- Article
Business Elites and European Integration: Really a Honeymoon Story?
- Published in:
- Journal of Common Market Studies, 2021, v. 59, n. 6, p. 1400, doi. 10.1111/jcms.13193
- By:
- Publication type:
- Article
Atrioventricular canal defect in patients with RASopathies.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 200, doi. 10.1038/ejhg.2012.145
- By:
- Publication type:
- Article
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 69, doi. 10.1038/ejhg.2012.109
- By:
- Publication type:
- Article
16p subtelomeric duplication: a clinically recognizable syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1135, doi. 10.1038/ejhg.2009.14
- By:
- Publication type:
- Article
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956
- By:
- Publication type:
- Article
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 903, doi. 10.1038/sj.ejhg.5200399
- By:
- Publication type:
- Article
Gaining Votes in Europe against Europe? How National Contexts Shaped the Results of Eurosceptic Parties in the 2014 European Parliament Elections.
- Published in:
- Journal of Contemporary European Research, 2016, v. 12, n. 3, p. 696, doi. 10.30950/jcer.v12i3.732
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- Publication type:
- Article
Leftward Displacement of Septum Primum in Children With Congenital Heart Disease.
- Published in:
- 2014
- By:
- Publication type:
- Letter