Found: 18
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Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72
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- Publication type:
- Article
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 300, doi. 10.1038/jhg.2014.21
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- Publication type:
- Article
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2803, doi. 10.1002/ajmg.a.40500
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- Article
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 724, doi. 10.1002/ajmg.a.36959
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- Article
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 634, doi. 10.1002/ajmg.a.36325
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- Article
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 415, doi. 10.1002/ajmg.a.36304
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- Article
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3049, doi. 10.1002/ajmg.a.36156
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- Article
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2078, doi. 10.1002/ajmg.a.36027
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- Article
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1779, doi. 10.1002/ajmg.a.35975
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- Publication type:
- Article
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1465, doi. 10.1002/ajmg.a.35910
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- Publication type:
- Article
Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1078, doi. 10.1002/ajmg.a.35679
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- Publication type:
- Article
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1771, doi. 10.1002/ajmg.a.35431
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- Article
A case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscope.
- Published in:
- 2023
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- Publication type:
- Case Study
Growth patterns of patients with 1p36 deletion syndrome.
- Published in:
- Congenital Anomalies, 2014, v. 54, n. 2, p. 82, doi. 10.1111/cga.12029
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- Article
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
- Published in:
- Congenital Anomalies, 2013, v. 53, n. 4, p. 166, doi. 10.1111/cga.12013
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- Publication type:
- Article
Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
- Published in:
- Congenital Anomalies, 2013, v. 53, n. 4, p. 155, doi. 10.1111/j.1741-4520.2012.00384.x
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- Publication type:
- Article
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1037, doi. 10.1002/jimd.12249
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- Publication type:
- Article
De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-15
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- Publication type:
- Article