Found: 12
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Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects.
- Published in:
- Public Health Nutrition, 2023, v. 26, n. 3, p. 620, doi. 10.1017/S1368980022001318
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- Publication type:
- Article
Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1755
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- Publication type:
- Article
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review.
- Published in:
- 2023
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- Publication type:
- Case Study
Infantile adrenocortical tumor with an activating GNAS1 mutation.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Prepregnancy exposure to dietary arsenic and congenital heart defects.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 1, p. 79, doi. 10.1002/bdr2.2110
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- Publication type:
- Article
Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 13, p. 746, doi. 10.1002/bdr2.2059
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- Publication type:
- Article
Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 12, p. 2393, doi. 10.1002/ccr3.2507
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- Publication type:
- Article
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
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- Publication type:
- Article
Novel mutations in the von Hippel-Lindau gene associated with congenital polycythemia.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 6, p. 1113, doi. 10.1002/pbc.25407
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- Publication type:
- Article
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.925582
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- Publication type:
- Article
Mutations in ARID2 are associated with intellectual disabilities.
- Published in:
- Neurogenetics, 2015, v. 16, n. 4, p. 307, doi. 10.1007/s10048-015-0454-0
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- Publication type:
- Article
Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot-Marie-Tooth disease type 1A.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 2, p. 199, doi. 10.1016/j.ejmhg.2014.12.002
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- Publication type:
- Article