Found: 10
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Alport syndrome: impact of digenic inheritance in patients management.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 1, p. 34, doi. 10.1111/cge.12919
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- Publication type:
- Article
Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 288, doi. 10.1111/j.1399-0004.2012.01901.x
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- Publication type:
- Article
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 4, p. 395, doi. 10.1111/j.1399-0004.2011.01810.x
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- Publication type:
- Article
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 258, doi. 10.1111/j.1399-0004.2005.00397.x
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- Publication type:
- Article
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 497, doi. 10.1046/j.1399-0004.2003.00176.x
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- Publication type:
- Article
Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 6, p. 510, doi. 10.1034/j.1399-0004.2003.00075.x
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- Publication type:
- Article
Vavi HAPLOINSUFFICIENCY IN A COMMON VARIABLE IMMUNODEFICIENCY PATIENT WITH DEFECTIVE T-CELL FUNCTION.
- Published in:
- International Journal of Immunopathology & Pharmacology, 2012, v. 25, n. 3, p. 811, doi. 10.1177/039463201202500332
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- Publication type:
- Article
Non-collagen genes role in digenic Alport syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
The Italian XLMR bank: a clinical and molecular database.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 13, doi. 10.1002/humu.20411
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- Publication type:
- Article
Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view.
- Published in:
- Journal of Cellular Physiology, 2005, v. 204, n. 1, p. 8, doi. 10.1002/jcp.20296
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- Publication type:
- Article