Found: 36
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Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 373, doi. 10.1007/s00439-010-0859-7
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- Article
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.
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- Human Genetics, 2009, v. 126, n. 4, p. 511, doi. 10.1007/s00439-009-0689-7
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- Article
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
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- Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x
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- Article
Reciprocal translocations: a trap for cytogenetists?
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- Human Genetics, 2005, v. 117, n. 6, p. 571, doi. 10.1007/s00439-005-1324-x
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- Article
Acceptance of COVID-19 and Influenza Vaccine Co-Administration: Insights from a Representative Italian Survey.
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- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020139
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- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Article
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 852, doi. 10.1038/ejhg.2012.19
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- Article
The phenotype of recurrent 10q22q23 deletions and duplications.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
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- Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142
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- Article
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis.
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- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 768, doi. 10.1038/ejhg.2010.1
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- Article
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 434, doi. 10.1038/ejhg.2008.192
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- Article
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications.
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- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 179, doi. 10.1038/ejhg.2008.160
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- Article
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
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- Article
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 880, doi. 10.1038/ejhg.2008.42
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- Article
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
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- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1105, doi. 10.1038/sj.ejhg.5201896
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- Article
Inverted duplications: how many of them are mosaic?
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 713, doi. 10.1038/sj.ejhg.5201240
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- Article
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
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- Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6
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Pierangelo Garegnani: Rebuilding Economic Theory.
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- PSL Quarterly Review, 2012, v. 65, n. 262, p. 311
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- Article
Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.
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- Neurological Sciences, 2020, v. 41, n. 8, p. 2271, doi. 10.1007/s10072-020-04417-2
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- Article
Idiopathic Central Precocious Puberty Associated with 11Mb De Novo Distal Deletion of the Chromosome 9 Short Arm.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/978087
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- Article
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.
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- Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 2, p. 117, doi. 10.21873/cgp.20172
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- Article
Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?
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- PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001460
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 322, doi. 10.1038/ng.93
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- Article
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.
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- PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002173
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- Article
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
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- Human Mutation, 2015, v. 36, n. 5, p. 562, doi. 10.1002/humu.22784
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- Article
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
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- Human Mutation, 2007, v. 28, n. 5, p. 459, doi. 10.1002/humu.20465
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- Article
Blanchard e Summers: rivoluzione o conservazione?
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- Moneta e Credito, 2019, v. 72, n. 287, p. 207, doi. 10.13133/2037-3651_72.287_4
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Pierangelo Garegnani: rifondare la teoria economica.
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- Moneta e Credito, 2012, v. 65, n. 259, p. 243
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- Article
Diffuse proliferative glomerulonephritis does not determine the worst outcome in childhood-onset lupus nephritis: a 23-year experience in a single centre.
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- Nephrology Dialysis Transplantation, 2009, v. 24, n. 9, p. 2729, doi. 10.1093/ndt/gfp173
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Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.
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- Nephrology Dialysis Transplantation, 2009, v. 24, n. 9, p. 2734, doi. 10.1093/ndt/gfp160
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- Article
MECP2 duplication phenotype in symptomatic females: report of three further cases.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-10
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- Article
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 823, doi. 10.1002/ajmg.a.61486
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A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 810, doi. 10.1002/ajmg.a.36907
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- Article
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2084, doi. 10.1002/ajmg.a.36591
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- Article
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2681, doi. 10.1002/ajmg.a.34248
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Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 769, doi. 10.1002/ajmg.a.33852
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- Article