Found: 23
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Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1804, doi. 10.1093/brain/awac417
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- Publication type:
- Article
Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3446, doi. 10.1002/ajmg.a.62465
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- Publication type:
- Article
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3136, doi. 10.1002/ajmg.a.38490
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- Publication type:
- Article
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports.
- Published in:
- 2004
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- Publication type:
- journal article
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006957
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- Publication type:
- Article
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243
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- Publication type:
- Article
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 4, p. 418, doi. 10.1038/sj.ejhg.5201593
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- Publication type:
- Article
A large deletion including most of GjB6 in recessive non syndromic deafness: a digenic effect?
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 72, doi. 10.1038/sj.ejhg.5200762
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- Publication type:
- Article
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
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- Publication type:
- Article
Élaboration et appréciation d'un cours sur les perspectives autochtones destiné à la formation à l'enseignement: le cas d'une université québécoise.
- Published in:
- Journal of the Canadian Association for Curriculum Studies, 2023, v. 20, n. 1, p. 65, doi. 10.25071/1916-4467.40755
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- Publication type:
- Article
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918
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- Publication type:
- Article
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
- Published in:
- Molecular Diagnosis & Therapy, 2022, v. 26, n. 5, p. 551, doi. 10.1007/s40291-022-00604-3
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- Publication type:
- Article
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.895
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- Publication type:
- Article
New mutation in the platelet β3-integrin gene: implication for the diagnosis of fetomaternal alloimmunization.
- Published in:
- Transfusion, 2006, v. 46, n. 12, p. 2138, doi. 10.1111/j.1537-2995.2006.01043.x
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- Publication type:
- Article
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis.
- Published in:
- Arthritis & Rheumatology, 2020, v. 72, n. 10, p. 1689, doi. 10.1002/art.41387
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- Publication type:
- Article
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1085, doi. 10.1002/pd.2350
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- Publication type:
- Article
Prader-Willi syndrome: is there a recognizable fetal phenotype?
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 796, doi. 10.1002/pd.1973
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- Publication type:
- Article
Early prenatal diagnosis of ICF syndrome by mutation detection.
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- Prenatal Diagnosis, 2007, v. 27, n. 11, p. 1075, doi. 10.1002/pd.1826
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- Publication type:
- Article
Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.
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- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1179, doi. 10.1002/pd.1585
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- Publication type:
- Article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
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- Publication type:
- Article
Non- USH2A mutations in USH2 patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004
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- Publication type:
- Article
Phenotypic and Cytogenetic Variety of Pure Partial Trisomy of Chromosome 16p.
- Published in:
- 2009
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- Publication type:
- Case Study
Molecular epidemiology of DFNB1 deafness in France.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 5, doi. 10.1186/1471-2350-5-5
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- Publication type:
- Article