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Genetic counseling clinical documentation: Practice Resource of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 5, p. 1336, doi. 10.1002/jgc4.1491
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- Publication type:
- Article
Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1139, doi. 10.1002/ajmg.a.61164
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- Publication type:
- Article
Poison treatment: Safety in numbers.
- Published in:
- Contemporary Pediatrics, 2002, v. 19, n. 7, p. 20
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- Publication type:
- Article
Misplacement of a femoral venous catheter into the ascending lumbar vein: repositioning using ultrasonographic guidance.
- Published in:
- 2001
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- Publication type:
- journal article
Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 952, doi. 10.1093/hmg/ddy391
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- Publication type:
- Article
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
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- Publication type:
- Article