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Expanding the Phenotypic Variability of PMPCA‐Related Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 894, doi. 10.1002/mdc3.14057
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- Publication type:
- Article
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1360, doi. 10.3390/genes12091360
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- Publication type:
- Article
Reply to: comment on Trujillo-Tiebas MJ et al. J Assist Reprod Genet.
- Published in:
- 2010
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- Publication type:
- Letter
MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16630673
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- Publication type:
- Article
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1075, doi. 10.1002/ajmg.a.36378
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- Publication type:
- Article