Found: 10
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NSD1 duplication in Silver-Russell syndrome ( SRS): molecular karyotyping in patients with SRS features.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 1, p. 73, doi. 10.1111/cge.12803
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- Publication type:
- Article
Diagnostic algorithms in Charcot--Marie--Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 1, p. 34, doi. 10.1111/cge.12594
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- Publication type:
- Article
Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 168, doi. 10.1111/j.1399-0004.2009.01200.x
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- Publication type:
- Article
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 79, doi. 10.1111/j.1399-0004.2007.00930.x
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- Publication type:
- Article
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter.
- Published in:
- 2005
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- Publication type:
- Letter
Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.
- Published in:
- Clinical Genetics, 2002, v. 62, n. 1, p. 89, doi. 10.1034/j.1399-0004.2002.620113.x
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- Publication type:
- Article
Segmental uniparental disomy of 7q31-qter is rare in Silver–Russell syndrome.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 5, p. 395, doi. 10.1034/j.1399-0004.2001.600514.x
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- Publication type:
- Article
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver–Russell syndrome.
- Published in:
- Clinical Genetics, 2001, v. 59, n. 5, p. 371, doi. 10.1034/j.1399-0004.2001.590515.x
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- Publication type:
- Article
A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).
- Published in:
- Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 85, doi. 10.1159/000056824
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- Publication type:
- Article
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L -Associated Neuropathy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study