Found: 13
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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 93, doi. 10.1007/s10048-018-0541-0
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- Publication type:
- Article
Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia.
- Published in:
- 2012
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- Publication type:
- Journal Article
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
- Published in:
- 2012
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- Publication type:
- Journal Article
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 25, doi. 10.1159/000355391
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- Publication type:
- Article
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
- Published in:
- Clinical Genetics, 2017, v. 91, n. 4, p. 576, doi. 10.1111/cge.12898
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- Publication type:
- Article
Single gene defects leading to sperm quantitative anomalies.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 2, p. 208, doi. 10.1111/cge.12900
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- Publication type:
- Article
Genetic abnormalities leading to qualitative defects of sperm morphology or function.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 2, p. 217, doi. 10.1111/cge.12905
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- Publication type:
- Article
Comprehensive investigation in patients affected by globozoospermia.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
In vitro study of Seraspenide on HIV-induced inhibition of granulopoiesis.
- Published in:
- European Journal of Haematology, 1997, v. 59, n. 3, p. 184, doi. 10.1111/j.1600-0609.1997.tb00973.x
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- Publication type:
- Article
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.
- Published in:
- Clinical Genetics, 2013, v. 84, n. 6, p. 596, doi. 10.1111/cge.12113
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- Publication type:
- Article
Intellectual disability, oncogenes and tumour suppressor genes: the way forward?
- Published in:
- Journal of Genetics, 2012, v. 91, n. 2, p. 257, doi. 10.1007/s12041-012-0154-6
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- Publication type:
- Article
Immortalization of primary sheep embryo kidney cells.
- Published in:
- In Vitro Cellular & Developmental Biology Animal, 2021, v. 57, n. 1, p. 76, doi. 10.1007/s11626-020-00520-y
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- Publication type:
- Article