Found: 16
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Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 1, p. 25, doi. 10.4274/jcrpe.galenos.2022.2022-3-15
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- Article
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.
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- International Journal of Fertility & Sterility, 2018, v. 12, n. 3, p. 218, doi. 10.22074/ijfs.2018.5260
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- Article
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
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- Nature Genetics, 2010, v. 42, n. 7, p. 619, doi. 10.1038/ng.594
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- Article
New insights into genotype-phenotype correlation for GLI3 mutations.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62
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- Article
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00620-2
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- Article
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene.
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00531-8
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- Article
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.
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- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0414-8
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- Article
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0966-9
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- Article
Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.
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- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 7, p. 1729, doi. 10.1007/s10815-020-01811-9
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- Article
Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia.
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- Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 10, p. 971, doi. 10.1007/s10815-011-9621-x
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- Article
Array-CGH study of partial trisomy 9p without mental retardation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1735, doi. 10.1002/ajmg.a.34044
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- Article
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
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- Reproductive Biology & Endocrinology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12958-022-01045-7
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- Article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
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- Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
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- Article
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
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- Human Mutation, 2010, v. 31, n. 5, p. E1319, doi. 10.1002/humu.21239
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- Article
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
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- Human Mutation, 2009, v. 30, n. 11, p. 1574, doi. 10.1002/humu.21116
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- Article
Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient’s phenotype? R.
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- Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.1061539
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- Article