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Chromosomal phenotypes and submicroscopic abnormalities.
- Published in:
- Human Genomics, 2004, v. 1, n. 2, p. 126, doi. 10.1186/1479-7364-1-2-126
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- Publication type:
- Article
Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 5, p. 548, doi. 10.1002/ajh.26487
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- Publication type:
- Article
Single-cell copy number variation detection.
- Published in:
- Genome Biology, 2011, v. 12, n. 8, p. 1, doi. 10.1186/gb-2011-12-8-r80
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- Publication type:
- Article
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.
- Published in:
- 2018
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- Publication type:
- journal article
Detecting mosaicism in trophectoderm biopsies.
- Published in:
- Human Reproduction, 2017, v. 32, n. 3, p. 712, doi. 10.1093/humrep/dew346
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- Publication type:
- Article
Detecting mosaicism in trophectoderm biopsies.
- Published in:
- 2017
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- Publication type:
- letter
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.
- Published in:
- 2009
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- Publication type:
- journal article
Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane.
- Published in:
- Journal of Cell Biology, 2003, v. 160, n. 6, p. 909, doi. 10.1083/jcb.200212064
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- Publication type:
- Article
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074
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- Publication type:
- Article
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1368, doi. 10.1093/hmg/ddq013
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- Publication type:
- Article
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 6, p. 1015, doi. 10.1093/hmg/ddl016
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- Publication type:
- Article
The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2019, v. 57, n. 11, p. e294, doi. 10.1515/cclm-2019-0231
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- Publication type:
- Article
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1286, doi. 10.1038/ejhg.2014.282
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- Publication type:
- Article
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135
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- Publication type:
- Article
Non-invasive prenatal testing: when results suggests maternal cancer.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 4, p. 285, doi. 10.1515/medgen-2023-2055
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- Publication type:
- Article
Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2038, doi. 10.3390/ijms20082038
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- Publication type:
- Article
GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.
- Published in:
- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0514-3
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- Publication type:
- Article
GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.
- Published in:
- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0514-3
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- Publication type:
- Article
Characterization of centromere alterations in liposarcomas.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 29, n. 2, p. 117, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1014>3.0.CO;2-Q
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- Publication type:
- Article
FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 20, n. 2, p. 155, doi. 10.1002/(SICI)1098-2264(199710)20:2<155::AID-GCC6>3.0.CO;2-2
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- Publication type:
- Article
Genome‐wide abnormalities in embryos: Origins and clinical consequences.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 5, p. 554, doi. 10.1002/pd.5895
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- Publication type:
- Article
Response to a comment on "Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing".
- Published in:
- 2018
- By:
- Publication type:
- letter
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA.
- Published in:
- 2018
- By:
- Publication type:
- letter
Genomic microarrays: a technology overview.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 336, doi. 10.1002/pd.2933
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- Publication type:
- Article
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH).
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1198, doi. 10.1002/pd.2651
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- Publication type:
- Article
Improved reference genome for the domestic horse increases assembly contiguity and composition.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0199-z
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- Publication type:
- Article
Improved reference genome for the domestic horse increases assembly contiguity and composition.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0199-z
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- Publication type:
- Article
Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 282, doi. 10.1159/000479666
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- Publication type:
- Article
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
- Published in:
- 2012
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- Publication type:
- Letter
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
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- Publication type:
- Article
The causality of de novo copy number variants is overestimated.
- Published in:
- 2011
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- Publication type:
- Letter
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 258, doi. 10.1038/ejhg.2009.164
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- Publication type:
- Article
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168
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- Publication type:
- Article
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1187, doi. 10.1038/ejhg.2008.71
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- Publication type:
- Article
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201785
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- Publication type:
- Article
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200930
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- Publication type:
- Article
Pseudoautosomal Region 1 Length Polymorphism in the Human Population.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 11, p. 1, doi. 10.1371/journal.pgen.1004578
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- Publication type:
- Article
Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia.
- Published in:
- Fetal Diagnosis & Therapy, 2011, v. 29, n. 1, p. 25, doi. 10.1159/000322422
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- Publication type:
- Article
Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 10, p. 1953, doi. 10.1038/mt.2012.117
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- Publication type:
- Article
22q11.2 Low Copy Repeats Expanded in the Human Lineage.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.706641
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- Publication type:
- Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
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- Publication type:
- Article
Post-zygotic origin of isochromosome 12p.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 12, p. 984, doi. 10.1002/pd.956
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- Publication type:
- Article
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9263-3
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- Publication type:
- Article
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0446-7
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- Publication type:
- Article
eXtasy: variant prioritization by genomic data fusion.
- Published in:
- Nature Methods, 2013, v. 10, n. 11, p. 1083, doi. 10.1038/nmeth.2656
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- Publication type:
- Article
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
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- Publication type:
- Article
Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 11, p. e63, doi. 10.1093/nar/gkac134
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- Publication type:
- Article
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 5, p. 2159, doi. 10.1093/nar/gky066
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- Publication type:
- Article
Large-scale analysis of tandem repeat variability in the human genome.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 9, p. 5728, doi. 10.1093/nar/gku212
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- Publication type:
- Article