Found: 25
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Torcular pseudomass: a potential diagnostic pitfall in infants and young children.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 397, doi. 10.1159/000521692
- By:
- Publication type:
- Article
UM TESTE DE RACIONALIDADE NA TOMADA DE DECISÕES DOS INDIVÍDUOS: Investigação Acerca da Presença de Vieses Previstos pelas Finanças Comportamentais.
- Published in:
- Perspectivas Contemporâneas, 2017, v. 12, n. 2, p. 172
- By:
- Publication type:
- Article
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 622, doi. 10.1177/0883073813479169
- By:
- Publication type:
- Article
Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1311, doi. 10.1002/ajmg.a.62636
- By:
- Publication type:
- Article
The clinical overlap between cardiac‐urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac‐urogenital syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1532, doi. 10.1002/ajmg.a.61551
- By:
- Publication type:
- Article
Wiedemann‐Steiner syndrome in two patients from Portugal.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 25, doi. 10.1002/ajmg.a.61407
- By:
- Publication type:
- Article
Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2839, doi. 10.1002/ajmg.a.37280
- By:
- Publication type:
- Article
Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1768, doi. 10.1002/ajmg.a.35968
- By:
- Publication type:
- Article
Chiari Malformation Type I in a patient with a novel NKX2-1 mutation.
- Published in:
- Journal of Pediatric Neurosciences, 2019, v. 14, n. 3, p. 169, doi. 10.4103/jpn.JPN_108_18
- By:
- Publication type:
- Article
Classic Ehlers-Danlos syndrome: Case Report and Brief Review of Literature.
- Published in:
- Acta Dermatovenerologica Croatica, 2013, v. 21, n. 2, p. 118
- By:
- Publication type:
- Article
BSCL2 N88S mutation in A Portuguese patient with the Silver syndrome.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 3, p. 456, doi. 10.1002/mus.24455
- By:
- Publication type:
- Article
Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1265, doi. 10.1515/jpem-2019-0047
- By:
- Publication type:
- Article
ntrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis.
- Published in:
- Journal of Neonatology, 2022, v. 36, n. 1, p. 63, doi. 10.1177/09732179211068815
- By:
- Publication type:
- Article
Sydenham's chorea in a family with Huntington's disease: case report and review of the literature.
- Published in:
- Sao Paulo Medical Journal, 2011, v. 129, n. 4, p. 267, doi. 10.1590/S1516-31802011000400011
- By:
- Publication type:
- Article
12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-019-0653-x
- By:
- Publication type:
- Article
Detection of a de novo heterozygous ANK2 variant in a child with autism spectrum disorder and epilepsy: a case report.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00389-y
- By:
- Publication type:
- Article
Syndrome of Transient Headache and Neurologic Deficits With Cerebrospinal Fluid Lymphocytosis (HaNDL): A Pediatric Case Report.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Investigação de Etiologia Genética nas Ataxias Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João, Portugal.
- Published in:
- Acta Médica Portuguesa, 2017, v. 30, n. 6, p. 502, doi. 10.20344/amp.8797
- By:
- Publication type:
- Article
Estudo Genético nas Distonias Primárias: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João.
- Published in:
- Acta Médica Portuguesa, 2017, v. 30, n. 4, p. 340, doi. 10.20344/amp.8622
- By:
- Publication type:
- Article
Investigação de Etiologia Genética nas Demências Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João.
- Published in:
- Acta Médica Portuguesa, 2016, v. 29, n. 10, p. 675, doi. 10.20344/amp.7583
- By:
- Publication type:
- Article
Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome.
- Published in:
- Clinical Pediatric Endocrinology, 2020, v. 29, n. 3, p. 111, doi. 10.1297/cpe.29.111
- By:
- Publication type:
- Article
Alternatives to herbicides for weed management of a pear orchard.
- Published in:
- Revista de Ciências Agrárias, 2024, v. 47, n. 1, p. 118, doi. 10.19084/rca.34860
- By:
- Publication type:
- Article
Fire4CAST – a new integrative epidemiological forecasting model for the accurate prediction of infection risk and effective control of fire blight in Pyrus orchards.
- Published in:
- Journal of Plant Pathology, 2024, v. 106, n. 3, p. 953, doi. 10.1007/s42161-024-01622-2
- By:
- Publication type:
- Article
Use of immuno-flow cytometry and real-time PCR disclose the epidemiological behaviour of Erwinia amylovora populations during the winter in Portuguese pear orchards.
- Published in:
- Journal of Plant Pathology, 2024, v. 106, n. 3, p. 937, doi. 10.1007/s42161-023-01561-4
- By:
- Publication type:
- Article