Found: 7
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Jacobsen syndrome.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Jacobsen syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-9
- By:
- Publication type:
- Article
Growth hormone, gender and face shape in prader-willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2453, doi. 10.1002/ajmg.a.36100
- By:
- Publication type:
- Article
Craniofacial characteristics of fragile X syndrome in mouse and man.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 816, doi. 10.1038/ejhg.2012.265
- By:
- Publication type:
- Article
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 11, p. 9715, doi. 10.1007/s11033-023-08764-z
- By:
- Publication type:
- Article
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1958, doi. 10.3390/genes14101958
- By:
- Publication type:
- Article
Do visuospatial and constructional disturbances differentiate frontal variant of frontotemporal dementia and Alzheimer's disease? An experimental study of a clinical belief.
- Published in:
- International Journal of Geriatric Psychiatry, 2002, v. 17, n. 7, p. 641, doi. 10.1002/gps.654
- By:
- Publication type:
- Article