Found: 24
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Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.
- Published in:
- 1999
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- Publication type:
- journal article
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.
- Published in:
- 1999
- By:
- Publication type:
- journal article
PARTIAL TRISOMY/MONOSOMY 6q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 8, p. 741, doi. 10.1002/(SICI)1097-0223(199608)16:8<741::AID-PD931>3.0.CO;2-W
- By:
- Publication type:
- Article
First-trimester prenatal diagnosis of Okihiro syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
EP04.04: Trisomy 13 with normal combined first trimester screening and normal NIPT: a rare case of true fetal mosaicism.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 249, doi. 10.1002/uog.21159
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- Publication type:
- Article
OP02.10: Non-invasive prenatal detection of fetal autosomal aneuploidies using massively parallel sequencing: a collaborative study in Europe.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 61, doi. 10.1002/uog.11408
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- Publication type:
- Article
P09.04: Prognostic reliability of the prenatal FISH-test.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 204, doi. 10.1002/uog.11880
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- Publication type:
- Article
Validation of a Postfixation Tissue Storage and Transport Medium to Preserve Histopathology and Molecular Pathology Analyses (Total and Phosphoactivated Proteins, and FISH).
- Published in:
- American Journal of Clinical Pathology, 2012, v. 137, n. 3, p. 429, doi. 10.1309/AJCPDZ4FAQ9BUEXC
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- Publication type:
- Article
G[sub 2] -phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome.
- Published in:
- Cell Proliferation, 2002, v. 35, n. 2, p. 93, doi. 10.1046/j.1365-2184.2002.00234.x
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- Publication type:
- Article
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 93, n. 3/4, p. 188, doi. 10.1159/000056983
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- Publication type:
- Article
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 92, n. 3/4, p. 186, doi. 10.1159/000056900
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- Publication type:
- Article
Female pseudohermaphroditism caused by caudal dysgenesis.
- Published in:
- Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 296, doi. 10.1159/000056860
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- Publication type:
- Article
OP02.10: The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women of advanced maternal age.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2009, v. 34, n. S1, p. 68, doi. 10.1002/uog.6664
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- Publication type:
- Article
High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements.
- Published in:
- Annals of Hematology, 2002, v. 81, n. 3, p. 147, doi. 10.1007/s00277-001-0424-5
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- Publication type:
- Article
Frequency of CFTR gene mutations in males participating in an ICSI programme.
- Published in:
- 1999
- By:
- Publication type:
- journal article
A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 11, p. 1100, doi. 10.1002/pd.2625
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- Publication type:
- Article
Linear and Extended Linear Transformations for Shared-Memory Multiprocessors.
- Published in:
- Computer Journal, 1997, v. 40, n. 6, p. 373, doi. 10.1093/comjnl/40.6.373
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- Publication type:
- Article
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
- Published in:
- Cytogenetic & Genome Research, 2009, v. 124, n. 1, p. 102, doi. 10.1159/000200094
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- Publication type:
- Article
Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics.
- Published in:
- Cytogenetic & Genome Research, 2006, v. 114, n. 3/4, p. 296, doi. 10.1159/000094217
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- Publication type:
- Article
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.
- Published in:
- Cytogenetic & Genome Research, 2005, v. 108, n. 4, p. 283, doi. 10.1159/000081521
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- Publication type:
- Article
Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes.
- Published in:
- Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 47, doi. 10.1159/000076287
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- Publication type:
- Article
Pränataldiagnostik: Aktuelle medizinische Aspekte.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2013, v. 56, n. 12, p. 1662, doi. 10.1007/s00103-013-1854-7
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- Publication type:
- Article
Preferential Inactivation of a dupX(q23 → q27-28) Chromosome in a Girl with Mental Retardation and Dysmorphy.
- Published in:
- Human Heredity, 2001, v. 52, n. 3, p. 177, doi. 10.1159/000053374
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- Publication type:
- Article
Zytogenetische Methoden in der Pränataldiagnostik.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 4, p. 457, doi. 10.1007/s11825-011-0298-4
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- Publication type:
- Article