Found: 12
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Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
- Published in:
- Human Reproduction, 2010, v. 25, n. 10, p. 2637, doi. 10.1093/humrep/deq167
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- Article
Erratum zu: Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1/2-Mutationen.
- Published in:
- 2014
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- Publication type:
- Erratum
Massive parallele Sequenzierung in der Diagnostik hereditärer BRCA1-/-2-Mutationen.
- Published in:
- Medizinische Genetik, 2014, v. 26, n. 2, p. 255, doi. 10.1007/s11825-014-0443-y
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- Article
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
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- Molecular Syndromology, 2012, v. 3, n. 1, p. 6, doi. 10.1159/000338975
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- Article
Sprachentwicklungsstörung bei Mosaik-Trisomie 8.
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- HNO, 2009, v. 57, n. 7, p. 685, doi. 10.1007/s00106-008-1811-1
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- Article
Sprachentwicklungsbehinderung beim Smith-Magenis-Syndrom.
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- HNO, 2007, v. 55, n. 8, p. 644, doi. 10.1007/s00106-006-1430-7
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- Article
Einseitige Innenohrschwerhörigkeit bei Mutationen im PAX3-Gen bei Waardenburg-Syndrom Typ I.
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- HNO, 2006, v. 54, n. 7, p. 557, doi. 10.1007/s00106-005-1315-1
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- Article
Molecular and clinical studies in 8 patients with Temple syndrome.
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- Clinical Genetics, 2018, v. 93, n. 6, p. 1179, doi. 10.1111/cge.13244
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- Article
Möglichkeiten und Grenzen der Molekularpathologie in der Dermatohistologie.
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- Der Hautarzt, 2018, v. 69, n. 7, p. 563, doi. 10.1007/s00105-018-4206-6
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- Article
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
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- Clinical Genetics, 2006, v. 70, n. 4, p. 330, doi. 10.1111/j.1399-0004.2006.00687.x
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- Article
Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin.
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- Cytogenetic & Genome Research, 2012, v. 136, n. 3, p. 163, doi. 10.1159/000336648
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- Publication type:
- Article
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
- Published in:
- Cytogenetic & Genome Research, 2009, v. 124, n. 1, p. 102, doi. 10.1159/000200094
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- Publication type:
- Article