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Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1409306
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- Publication type:
- Article
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1409306
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- Publication type:
- Article
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2457, doi. 10.1111/j.1528-1167.2010.02742.x
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- Publication type:
- Article
Corrigendum to “Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA”.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/568047
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- Publication type:
- Article
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/903175
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- Publication type:
- Article
Further delineation of Char syndrome.
- Published in:
- Pediatrics International, 2000, v. 42, n. 1, p. 85, doi. 10.1046/j.1442-200X.2000.01158.x
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- Publication type:
- Article
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 521, doi. 10.1007/s10038-007-0146-1
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- Publication type:
- Article
A Complex Chromosomal Rearrangement Involving Chromosomes 2, 5, and X in Autism Spectrum Disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 5, p. 529, doi. 10.1002/ajmg.b.32059
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- Publication type:
- Article
Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63544
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- Publication type:
- Article
Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 676, doi. 10.1002/ajmg.a.62542
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- Publication type:
- Article
Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3916, doi. 10.1002/ajmg.a.62454
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- Publication type:
- Article
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3099, doi. 10.1002/ajmg.a.62376
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- Publication type:
- Article
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1561, doi. 10.1002/ajmg.a.62140
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- Publication type:
- Article
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2965, doi. 10.1002/ajmg.a.37857
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- Publication type:
- Article
Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1162, doi. 10.1002/ajmg.a.36424
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- Publication type:
- Article
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 479, doi. 10.1002/ajmg.a.35761
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- Publication type:
- Article
Challenges in the Orthodontic Treatment of a Patient With Pycnodysostosis.
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- Cleft Palate Craniofacial Journal, 2014, v. 51, n. 6, p. 735, doi. 10.1597/12-233
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- Publication type:
- Article
Dental Evaluation of Kabuki Syndrome Patients.
- Published in:
- Cleft Palate Craniofacial Journal, 2009, v. 46, n. 6, p. 668, doi. 10.1597/08-077.1
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- Publication type:
- Article
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
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- International Journal of Dermatology, 2015, v. 54, n. 6, p. e241, doi. 10.1111/ijd.12713
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- Publication type:
- Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z
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- Publication type:
- Article
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 122, doi. 10.1038/ejhg.2011.125
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- Publication type:
- Article
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder.
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- Clinical Genetics, 2023, v. 103, n. 4, p. 383, doi. 10.1111/cge.14296
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- Publication type:
- Article
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
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- Clinical Genetics, 2021, v. 100, n. 5, p. 615, doi. 10.1111/cge.14041
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- Publication type:
- Article
Hyaline fibromatosis syndrome: New unifying term and surgical approach.
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- Indian Journal of Pathology & Microbiology, 2012, v. 55, n. 2, p. 262, doi. 10.4103/0377-4929.97903
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- Publication type:
- Article
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
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- 2019
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- Publication type:
- journal article
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7
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- Publication type:
- Article
A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 7, p. 1, doi. 10.1002/pbc.30311
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- Publication type:
- Article
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
- Published in:
- 2020
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- Publication type:
- Case Study
Rothmund-Thomson syndrome, a disorder far from solved.
- Published in:
- Frontiers in Aging, 2023, p. 1, doi. 10.3389/fragi.2023.1296409
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- Publication type:
- Article
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
- Published in:
- Frontiers in Cellular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fncel.2021.803302
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- Publication type:
- Article
Alterações comportamentais na Síndrome de Noonan: dados preliminares brasileiros.
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- Revista Latinoamericana de Psicología, 2010, v. 42, n. 1, p. 87
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- Publication type:
- Article
Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538
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- Publication type:
- Article
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
- Published in:
- Genes, 2016, v. 7, n. 11, p. 96, doi. 10.3390/genes7110096
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- Publication type:
- Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in <italic>PLOD2</italic>.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 4, p. 753, doi. 10.1002/jbmr.3348
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- Publication type:
- Article
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
- Published in:
- Molecular Neurobiology, 2024, v. 61, n. 8, p. 5230, doi. 10.1007/s12035-023-03894-8
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- Publication type:
- Article
Rothmund-Thomson syndrome, a disorder far from solved.
- Published in:
- Frontiers in Aging Neuroscience, 2023, p. 1, doi. 10.3389/fragi.2023.1296409
- By:
- Publication type:
- Article
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 12, doi. 10.1159/000444729
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- Publication type:
- Article
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 2, p. 87, doi. 10.1159/000407418
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- Publication type:
- Article