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The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
- Published in:
- Genetics Research, 2021, p. 1, doi. 10.1155/2021/6652957
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- Article
Characterization of FGD5 Expression in Primary Breast Cancers and Lymph Node Metastases.
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- Journal of Histochemistry & Cytochemistry, 2018, v. 66, n. 11, p. 787, doi. 10.1369/0022155418792032
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- Publication type:
- Article
Surgical management of endobronchial hamartoma.
- Published in:
- Lung India, 2018, v. 35, n. 2, p. 179, doi. 10.4103/lungindia.lungindia_209_17
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- Publication type:
- Article
Aarskog-Scott syndrome: An unusual cause of scoliosis.
- Published in:
- 2017
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- Publication type:
- Case Study
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.
- Published in:
- Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2623, doi. 10.3892/etm.2017.4301
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- Article
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
- Published in:
- 2017
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- Publication type:
- journal article
Identifying Aarskog Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Association of FGD1 polymorphisms with early-onset breast cancer.
- Published in:
- Oncology Letters, 2016, v. 12, n. 3, p. 2071, doi. 10.3892/ol.2016.4911
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- Publication type:
- Article
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.
- Published in:
- 2016
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- Publication type:
- Case Study
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 197, doi. 10.1002/mgg3.132
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- Publication type:
- Article
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178
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- Publication type:
- Article
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
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- European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1373, doi. 10.1007/s00431-014-2317-3
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- Publication type:
- Article
Syndromic Disorders with Short Stature.
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- Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 1, p. 1, doi. 10.4274/Jcrpe.1149
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- Publication type:
- Article
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
- Published in:
- 2012
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- Publication type:
- Letter to the Editor
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108
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- Publication type:
- Article
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
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- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081
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- Publication type:
- Article
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 869, doi. 10.1038/sj.ejhg.5200553
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- Publication type:
- Article
Brief Report: Autism and Aarskog Syndrome.
- Published in:
- Journal of Autism & Developmental Disorders, 1999, v. 29, n. 2, p. 179, doi. 10.1023/A:1023005029949
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- Publication type:
- Article