Found: 9
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Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 116, doi. 10.1034/j.1399-0004.2000.580205.x
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- Publication type:
- Article
Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/592702
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- Publication type:
- Article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
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- Article
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 428, doi. 10.1002/ajmg.a.36857
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- Publication type:
- Article
Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4540, doi. 10.1210/jc.2009-0186
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- Article
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
- Published in:
- 2013
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- Publication type:
- Journal Article
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
- Published in:
- Human Reproduction, 2013, v. 28, n. 7, p. 2003, doi. 10.1093/humrep/det121
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- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Publication type:
- Article
Fertility defects revealing germline biallelic nonsense NBN mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 424, doi. 10.1002/humu.20904
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- Publication type:
- Article