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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 469, doi. 10.1111/j.1399-0004.2008.01094.x
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- Article
Nanoscale Analysis by EFTEM and FIB-Tomography for Optimization of Thin-Film Silicon Solar Cells.
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- 2010
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- Publication type:
- Abstract
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.
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- Human Genetics, 2021, v. 140, n. 11, p. 1517, doi. 10.1007/s00439-021-02373-1
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- Article
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
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- Human Genetics, 2021, v. 140, n. 11, p. 1581, doi. 10.1007/s00439-021-02330-y
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- Article
Identification of aneuploidy in dogs screened by a SNP microarray.
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- Human Genetics, 2021, v. 140, n. 11, p. 1619, doi. 10.1007/s00439-021-02318-8
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- Article
Genetic screening and mutation identification in a rare canine breed, the ceský fousek.
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- Veterinary Record Case Reports, 2017, v. 4, n. 2, p. 1, doi. 10.1136/vetreccr-2016-000346
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- Article
Genetic screening and mutation identification in a rare canine breed, the ceský fousek.
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- Veterinary Record Case Reports, 2016, v. 4, n. 2, p. 1, doi. 10.1136/vetreccr-2016-000346
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- Publication type:
- Article
Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond.
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- Veterinary Record Case Reports, 2015, p. 1, doi. 10.1136/vetreccr-2015-000185
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- Article
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866
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- Article
Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
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- Article
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
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- Nature Genetics, 2010, v. 42, n. 9, p. 745, doi. 10.1038/ng.643
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- Article
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
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- Nature Genetics, 2010, v. 42, n. 3, p. 203, doi. 10.1038/ng.534
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- Publication type:
- Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
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- Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
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- Publication type:
- Article
A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33.
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- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012462
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- Article
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome.
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- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006568
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- Publication type:
- Article
Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.
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- Human Genetics, 2019, v. 138, n. 5, p. 501, doi. 10.1007/s00439-019-02013-9
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- Publication type:
- Article
Standards and guidelines for canine clinical genetic testing laboratories.
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- Human Genetics, 2019, v. 138, n. 5, p. 493, doi. 10.1007/s00439-018-1954-4
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- Article
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
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- Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7
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- Article
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.
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- Human Genetics, 2006, v. 120, n. 4, p. 519, doi. 10.1007/s00439-006-0222-1
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- Article
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
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- Human Genetics, 2004, v. 114, n. 2, p. 198, doi. 10.1007/s00439-003-1029-y
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- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Article
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237
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- Publication type:
- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Article
Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1255, doi. 10.1038/sj.ejhg.5201710
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- Article
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201366
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- Article
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201302
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- Publication type:
- Article
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
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- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 764, doi. 10.1038/sj.ejhg.5200536
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- Article
Photocurrent enhancement in thin film amorphous silicon solar cells with silver nanoparticles.
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- Progress in Photovoltaics, 2011, v. 19, n. 3, p. 260, doi. 10.1002/pip.1015
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- Article
UV-nano-imprint lithography technique for the replication of back reflectors for n-i-p thin film silicon solar cells.
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- Progress in Photovoltaics, 2011, v. 19, n. 2, p. 202, doi. 10.1002/pip.1003
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- Article
Mechanisms of wafer sawing and impact on wafer properties.
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- Progress in Photovoltaics, 2010, v. 18, n. 8, p. 563, doi. 10.1002/pip.972
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- Article
Microcrystalline silicon solar cells: effect of substrate temperature on cracks and their role in post-oxidation.
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- Progress in Photovoltaics, 2010, v. 18, n. 7, p. 491, doi. 10.1002/pip.956
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- Article
TCOs for nip thin film silicon solar cells.
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- Progress in Photovoltaics, 2009, v. 17, n. 3, p. 165, doi. 10.1002/pip.869
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- Article
Efficient nanocoax-based solar cells.
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- Physica Status Solidi - Rapid Research Letters, 2010, v. 4, n. 7, p. 181, doi. 10.1002/pssr.201004154
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- Article
Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing.
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- Journal of Veterinary Diagnostic Investigation, 2019, v. 31, n. 2, p. 276, doi. 10.1177/1040638718825281
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- Article
Characterisation of rough reflecting substrates incorporated into thin-film silicon solar cells.
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- Progress in Photovoltaics, 2006, v. 14, n. 6, p. 485, doi. 10.1002/pip.681
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- Article
Local series resistance mapping of silicon solar cells by microwave photoconductivity decay measurements.
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- Progress in Photovoltaics, 2003, v. 11, n. 5, p. 309, doi. 10.1002/pip.493
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- Publication type:
- Article
Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia.
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- Leukemia (08876924), 2011, v. 25, n. 6, p. 1042, doi. 10.1038/leu.2011.33
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- Article
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
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- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3769, doi. 10.1093/hmg/ddr293
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- Article
Assessing karyotype precision by microarraybasedcomparative genomic hybridization in themyelodysplastic/myeloproliferative syndromes.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 23, doi. 10.1186/1755-8166-3-23
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- Article
Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis.
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- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 4, doi. 10.1186/1755-8166-4-4
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- Article
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CHG.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 11, doi. 10.1186/1755-8166-3-11
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- Publication type:
- Article
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1906, doi. 10.1002/ajmg.a.34100
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- Article
Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism.
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- PLoS Genetics, 2014, v. 10, n. 1, p. 1, doi. 10.1371/journal.pgen.1004139
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- Article
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 976, doi. 10.1002/pd.3945
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- Article
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
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- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 986, doi. 10.1002/pd.3943
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- Article
Referral patterns for microarray testing in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 6, p. 611, doi. 10.1002/pd.3909
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- Article
Referral patterns for microarray testing in prenatal diagnosis.
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- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 344, doi. 10.1002/pd.3856
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- Article
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
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- Prenatal Diagnosis, 2011, v. 31, n. 8, p. 778, doi. 10.1002/pd.2766
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- Article
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
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- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 789, doi. 10.1002/pd.2053
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- Article
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.
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- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 333, doi. 10.1002/pd.1411
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- Article