Found: 15
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Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
- Published in:
- Basic & Clinical Andrology, 2018, v. 28, n. 1, p. N.PAG, doi. 10.1186/s12610-018-0069-z
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- Publication type:
- Article
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
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- Neurogenetics, 2019, v. 20, n. 3, p. 145, doi. 10.1007/s10048-019-00581-6
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- Publication type:
- Article
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
- Published in:
- 2016
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- Publication type:
- journal article
Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 4, p. e41, doi. 10.1515/cclm-2012-0416
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- Publication type:
- Article
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3664, doi. 10.3390/ijms24043664
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- Publication type:
- Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 1, p. 118, doi. 10.1002/pd.6074
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- Publication type:
- Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
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- Publication type:
- Article
Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 560, doi. 10.1111/cge.14274
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- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Publication type:
- Article
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
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- Clinical Genetics, 2018, v. 94, n. 6, p. 575, doi. 10.1111/cge.13449
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- Publication type:
- Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
- Published in:
- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
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- Publication type:
- Article
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 64, doi. 10.1002/humu.21639
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- Publication type:
- Article
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
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- Publication type:
- Article
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450
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- Publication type:
- Article
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
- Published in:
- EMBO Journal, 2020, v. 39, n. 13, p. 1, doi. 10.15252/embj.2019104163
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- Publication type:
- Article