Found: 10
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High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 10, p. 945, doi. 10.1002/gcc.20358
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- Publication type:
- Article
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
- Published in:
- Molecular Syndromology, 2016, v. 6, n. 5, p. 210, doi. 10.1159/000441408
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- Publication type:
- Article
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 199, doi. 10.1111/cge.13853
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- Publication type:
- Article
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 2, p. 111, doi. 10.1002/pd.803
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- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern].
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 87, doi. 10.2147/TACG.S307411
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- Publication type:
- Article
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).
- Published in:
- Application of Clinical Genetics, 2008, v. 1, p. 19
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- Publication type:
- Article
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 832, doi. 10.1002/ajmg.a.61093
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- Publication type:
- Article
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3213, doi. 10.1002/ajmg.a.36765
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- Publication type:
- Article