Found: 25
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Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 483, doi. 10.1111/cge.14570
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- Publication type:
- Article
<italic>NUP98‐BPTF</italic> gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 6, p. 311, doi. 10.1002/gcc.22532
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- Publication type:
- Article
Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1.
- Published in:
- Movement Disorders, 2009, v. 24, n. 1, p. 40, doi. 10.1002/mds.22263
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- Publication type:
- Article
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 150, doi. 10.1186/s12920-014-0070-0
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- Publication type:
- Article
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
- Published in:
- BMC Medical Genomics, 2011, v. 4, n. 1, p. 25, doi. 10.1186/1755-8794-4-25
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- Publication type:
- Article
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
- Published in:
- 2018
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- Publication type:
- journal article
The genetic landscape of infantile spasms.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4846, doi. 10.1093/hmg/ddu199
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- Publication type:
- Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
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- Publication type:
- Article
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 792, doi. 10.1038/ejhg.2013.248
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- Publication type:
- Article
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
- Published in:
- BMC Genomics, 2009, v. 10, p. 526, doi. 10.1186/1471-2164-10-526
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- Publication type:
- Article
Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature.
- Published in:
- 2015
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- Publication type:
- Other
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
- Published in:
- 2016
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- Publication type:
- journal article
Genetic Testing in a Cohort of Complex Esophageal Atresia.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 5, p. 236, doi. 10.1159/000477429
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- Publication type:
- Article
Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002903
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- Publication type:
- Article
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly.
- Published in:
- Pediatric Cardiology, 2020, v. 41, n. 2, p. 230, doi. 10.1007/s00246-019-02246-5
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- Publication type:
- Article
Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 5, p. 528, doi. 10.1002/pd.2187
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- Publication type:
- Article
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
- Published in:
- Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1866-1955-6-9
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- Publication type:
- Article
The impact of comparative genomic hybridization/single‐nucleotide polymorphism microarray in risk stratification of pediatric acute lymphoblastic leukemia.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 9, p. 1, doi. 10.1002/pbc.31129
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- Publication type:
- Article
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
- Published in:
- Human Genetics, 2014, v. 133, n. 3, p. 321, doi. 10.1007/s00439-013-1379-z
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- Publication type:
- Article
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
- Published in:
- Scientific Reports, 2016, p. 28663, doi. 10.1038/srep28663
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- Publication type:
- Article
Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2705, doi. 10.1002/ajmg.a.34260
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- Publication type:
- Article
Familial deletion 18p syndrome: case report.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 60, doi. 10.1186/1471-2350-7-60
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- Publication type:
- Article
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 83, doi. 10.1007/s10545-009-9026-5
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- Publication type:
- Article
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
- Published in:
- Human Mutation, 2008, v. 29, n. 12, p. 1435, doi. 10.1002/humu.20799
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- Publication type:
- Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426
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- Publication type:
- Article