Found: 17
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The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 1, p. E26, doi. 10.1002/ajh.25667
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- Publication type:
- Article
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 12, p. E217, doi. 10.1002/ajh.24178
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- Publication type:
- Article
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2683, doi. 10.1007/s00431-023-04909-1
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- Publication type:
- Article
Discovery of variants unmasked by hemizygous deletions.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263
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- Publication type:
- Article
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 39, doi. 10.1038/ejhg.2009.120
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- Publication type:
- Article
Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 3, p. 262, doi. 10.1038/sj.ejhg.5201553
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- Publication type:
- Article
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.
- Published in:
- 2021
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- Publication type:
- journal article
Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 10, p. 964, doi. 10.1002/(SICI)1097-0223(199710)17:10<964::AID-PD164>3.0.CO;2-6
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- Publication type:
- Article
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005324
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- Publication type:
- Article
Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.
- Published in:
- 2018
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- Publication type:
- journal article
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 342, doi. 10.1038/74155
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- Publication type:
- Article
Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 18, p. e159, doi. 10.1093/nar/gni161
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- Publication type:
- Article
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2431, doi. 10.1002/ajmg.a.37818
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- Publication type:
- Article
Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 29, doi. 10.1002/ajmg.a.36184
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- Publication type:
- Article
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 3, p. 450, doi. 10.1002/ana.410380316
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- Publication type:
- Article
Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.679
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- Publication type:
- Article
Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.
- Published in:
- Oral Diseases, 2023, v. 29, n. 1, p. 300, doi. 10.1111/odi.13954
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- Publication type:
- Article