Found: 6
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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1266, doi. 10.1038/ejhg.2014.256
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- Publication type:
- Article
Locus-specific dual color-probe for the enumeration of chromosome 18 in rapid FISH aneuploidy testing on uncultured amniocytes.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 8, p. 811, doi. 10.1002/pd.2569
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Publication type:
- Article
Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.
- Published in:
- 2022
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- Publication type:
- Case Study
Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2454, doi. 10.1002/ajmg.a.61779
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- Publication type:
- Article
A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1887, doi. 10.1002/ajmg.a.38119
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- Publication type:
- Article