Found: 22
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Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 2, p. 148, doi. 10.1034/j.1399-0004.2000.570210.x
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- Publication type:
- 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
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- Publication type:
- Article
Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times.
- Published in:
- 1988
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- Publication type:
- journal article
First-trimester prenatal diagnosis of Okihiro syndrome.
- Published in:
- 2010
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- Publication type:
- journal 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
Low-grade non-Hodgkin's lymphoma after high-grade non-Hodgkin's lymphoma in a child with ataxia telangiectasia.
- Published in:
- 1994
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- Publication type:
- journal 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
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
Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan.
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- Ultrasound in Obstetrics & Gynecology, 2006, v. 27, n. 6, p. 613, doi. 10.1002/uog.2709
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- Publication type:
- Article
Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2001, v. 17, n. 3, p. 263, doi. 10.1046/j.1469-0705.2001.00242.x
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- Publication type:
- Article
Ulerythema Ophryogenes and Keratosis Pilaris in a Child with Monosomy 18p.
- Published in:
- Pediatric Dermatology, 1994, v. 11, n. 2, p. 172, doi. 10.1111/j.1525-1470.1994.tb00575.x
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- Publication type:
- Article
Dystocia and Fetotomy Associated with Cerebral Aplasia in a Greater One-horned Rhinoceros ( Rhinoceros unicornis).
- Published in:
- Reproduction in Domestic Animals, 2011, v. 46, n. 1, p. e97, doi. 10.1111/j.1439-0531.2010.01610.x
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- Publication type:
- Article
A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset.
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- Prenatal Diagnosis, 2010, v. 30, n. 11, p. 1100, doi. 10.1002/pd.2625
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- Publication type:
- Article
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 797, doi. 10.1093/hmg/10.8.797
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- Publication type:
- Article
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 797, doi. 10.1093/hmg/10.8.797
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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.
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- Cytogenetic & Genome Research, 2006, v. 114, n. 3/4, p. 296, doi. 10.1159/000094217
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- Publication type:
- Article
Wissenschaftlich-technische Voraussetzungen zur Durchführung zytogenetischer Laboruntersuchungen.
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- Journal of Laboratory Medicine / Laboratoriums Medizin, 1982, v. 6, n. 11, p. 279
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- Publication type:
- Article
AT-related disorder.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 1, p. 20, doi. 10.1111/j.1399-0004.1988.tb04260.x
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- Publication type:
- Article
Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study.
- Published in:
- Clinical Genetics, 1986, v. 30, n. 1, p. 1, doi. 10.1111/j.1399-0004.1986.tb00563.x
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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