Found: 11
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Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 6, p. 281, doi. 10.1111/j.1399-0004.1995.tb03965.x
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- Publication type:
- Article
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 1003, doi. 10.1111/ped.12692
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- Publication type:
- Article
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2894, doi. 10.1002/ajmg.a.36259
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- Publication type:
- Article
An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3182, doi. 10.1002/ajmg.a.35631
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- Publication type:
- Article
Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
- Published in:
- 2002
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- Publication type:
- journal article
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 636, doi. 10.1038/ejhg.2009.235
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- Publication type:
- Article
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 345, doi. 10.1038/sj.ejhg.5200191
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- Publication type:
- Article
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00131
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- Publication type:
- Article
Naevoid Basal Cell Carcinoma Syndrome in a 22-month-old Child Presenting with Multiple Basal Cell Carcinomas and a Fetal Rhabdomyoma.
- Published in:
- 2015
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- Publication type:
- Case Study
Ehlers-Danlos syndrome versus cleidocranial dysplasia.
- Published in:
- Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-49
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- Publication type:
- Article
Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.
- Published in:
- European Journal of Orthodontics, 2011, v. 33, n. 5, p. 498, doi. 10.1093/ejo/cjq107
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- Publication type:
- Article