Found: 15
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Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.
- Published in:
- Human Genetics, 2024, v. 143, n. 1, p. 71, doi. 10.1007/s00439-023-02622-5
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- Article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 746, doi. 10.1002/pd.6382
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- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
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- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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- Article
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1815, doi. 10.3390/ijms23031815
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- Article
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
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- Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16294-6
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- Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
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- Publication type:
- Article
Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 4, p. 803, doi. 10.1007/s10815-020-01736-3
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- Publication type:
- Article
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
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- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 973, doi. 10.1007/s10815-019-01430-z
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- Article
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
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- Publication type:
- Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
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- Publication type:
- Article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
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- 2016
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- Publication type:
- journal article
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
- Published in:
- 2016
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- Publication type:
- journal article