Found: 37
Select item for more details and to access through your institution.
Genomic analysis of cattle rob(1;29).
- Published in:
- Chromosome Research, 2012, v. 20, n. 7, p. 815, doi. 10.1007/s10577-012-9315-y
- By:
- Publication type:
- Article
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1967, doi. 10.1093/hmg/ddq075
- By:
- Publication type:
- Article
Characterization of a recurrent 15q24 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
- By:
- Publication type:
- Article
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 609, doi. 10.3390/ijms18030609
- By:
- Publication type:
- Article
Assessment of copy number variations in 120 patients with Poland syndrome.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0351-x
- By:
- Publication type:
- Article
Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 6, p. 287, doi. 10.1159/000369421
- By:
- Publication type:
- Article
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.
- Published in:
- Sexual Development, 2016, v. 9, n. 5, p. 289, doi. 10.1159/000441512
- By:
- Publication type:
- Article
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 483, doi. 10.1038/ejhg.2008.191
- By:
- Publication type:
- Article
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
- By:
- Publication type:
- Article
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 76, doi. 10.1038/sj.ejhg.5201719
- By:
- Publication type:
- Article
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
- By:
- Publication type:
- Article
Genotype-Phenotype Correlation of 2q37 Deletions Including <i>NPPC</i> Gene Associated with Skeletal Malformations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066048
- By:
- Publication type:
- Article
Identification of an Interstitial 18p11.32-p11.31 Duplication Including the <i>EMILIN2</i> Gene in a Family with Porokeratosis of Mibelli.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061311
- By:
- Publication type:
- Article
Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of <i>De Novo</i> Pathogenic Microdeletions and Microduplications in the Offspring.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057910
- By:
- Publication type:
- Article
A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially.
- Published in:
- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010263
- By:
- Publication type:
- Article
Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration.
- Published in:
- Stem Cells, 2015, v. 33, n. 6, p. 2077, doi. 10.1002/stem.1968
- By:
- Publication type:
- Article
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0054-y
- By:
- Publication type:
- Article
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-52
- By:
- Publication type:
- Article
Familial Poland anomaly revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 140, doi. 10.1002/ajmg.a.34370
- By:
- Publication type:
- Article
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-63
- By:
- Publication type:
- Article
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 93, doi. 10.1186/1471-2350-13-93
- By:
- Publication type:
- Article
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 724, doi. 10.1002/humu.20511
- By:
- Publication type:
- Article
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 426, doi. 10.1002/humu.20235
- By:
- Publication type:
- Article
Hyaline Cartilage Microtissues Engineered from Adult Dedifferentiated Chondrocytes: Safety and Role of WNT Signaling.
- Published in:
- Stem Cells Translational Medicine, 2022, v. 11, n. 12, p. 1219, doi. 10.1093/stcltm/szac074
- By:
- Publication type:
- Article
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a lowfrequency noncoding RBM8A SNP: a new familial case.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0188-6
- By:
- Publication type:
- Article
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
- Published in:
- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0227411
- By:
- Publication type:
- Article
Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential.
- Published in:
- Journal of Cellular & Molecular Medicine, 2012, v. 16, n. 3, p. 456, doi. 10.1111/j.1582-4934.2011.01334.x
- By:
- Publication type:
- Article
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 4, p. 598, doi. 10.1007/s00415-009-5380-3
- By:
- Publication type:
- Article
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1203, doi. 10.1002/humu.22617
- By:
- Publication type:
- Article
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. 1352, doi. 10.1002/humu.21378
- By:
- Publication type:
- Article
MECP2 duplication syndrome in a patient from Cameroon.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 619, doi. 10.1002/ajmg.a.61510
- By:
- Publication type:
- Article
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 537, doi. 10.1002/ajmg.a.36895
- By:
- Publication type:
- Article
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1254, doi. 10.1002/ajmg.a.36412
- By:
- Publication type:
- Article
Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 801, doi. 10.1002/ajmg.a.36357
- By:
- Publication type:
- Article
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells.
- Published in:
- Journal of Applied Toxicology, 2012, v. 32, n. 3, p. 233, doi. 10.1002/jat.1793
- By:
- Publication type:
- Article