Found: 11
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Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023
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- Publication type:
- Article
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
- Published in:
- 2022
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- Publication type:
- Case Study
Epilepsy With Cognitive Deficit and Autism Spectrum Disorders: Prospective Diagnosis by Array CGH.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 24, doi. 10.1002/ajmg.b.32114
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- Publication type:
- Article
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1330, doi. 10.1002/ajmg.a.36968
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- Publication type:
- Article
Phenotypes of AKT3 deletion: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 174, doi. 10.1002/ajmg.a.36710
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- Publication type:
- Article
Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 834, doi. 10.1002/ajmg.a.36336
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- Publication type:
- Article
De novo intragenic deletion of the autism susceptibility candidate 2 ( AUTS2) gene in a patient with developmental delay: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1508, doi. 10.1002/ajmg.a.35922
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- Publication type:
- Article
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3168, doi. 10.1002/ajmg.a.35456
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- Publication type:
- Article
Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3139, doi. 10.1002/ajmg.a.34310
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- Publication type:
- Article
Rare copy number variation in cerebral palsy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 40, doi. 10.1038/ejhg.2013.93
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- Publication type:
- Article
Chromosomal localization of the human urokinase plasminogen activator receptor and plasminogen activator inhibitor type-2 genes: Implications in colorectal cancer.
- Published in:
- Journal of Gastroenterology & Hepatology, 1994, v. 9, n. 4, p. 340, doi. 10.1111/j.1440-1746.1994.tb01252.x
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- Publication type:
- Article