Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia ( SPG4) using direct mutation detection.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 363, doi. 10.1002/pd.875
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- Publication type:
- Article
Works matching IS 01973851 AND DT 2004 AND VI 24 AND IP 5
Results: 17
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A comparative study of prenatal ultrasound findings and post-mortem examination in a tertiary referral centre.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 339, doi. 10.1002/pd.871
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- Publication type:
- Article
3
A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
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- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 384, doi. 10.1002/pd.889
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- Publication type:
- Article
4
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 393, doi. 10.1002/pd.891
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- Publication type:
- Article
5
Prenatal identification of fetal overgrowth, abdominal wall defect, and neural tube defect in pregnancies achieved by assisted reproductive technology.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 396, doi. 10.1002/pd.822
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- Publication type:
- Article
6
Semiquantitative assessment of myelination using magnetic resonance imaging in normal fetal brains.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 352, doi. 10.1002/pd.873
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- Publication type:
- Article
7
Genetic approach to prenatal diagnosis in urea cycle defects.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 378, doi. 10.1002/pd.884
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- Publication type:
- Article
8
Fetal serum ß2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 327, doi. 10.1002/pd.866
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- Publication type:
- Article
9
Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 371, doi. 10.1002/pd.877
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- Publication type:
- Article
10
Prenatal screening for Down syndrome: the problem of recurrent false-positives.
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- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 389, doi. 10.1002/pd.890
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- Publication type:
- Article
11
A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 347, doi. 10.1002/pd.872
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- Publication type:
- Article
12
Nucleotide differences in SMN1 and SMN2 gene.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 398, doi. 10.1002/pd.843
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- Publication type:
- Article
13
Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 367, doi. 10.1002/pd.876
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- Publication type:
- Article
14
Second-trimester nasal bone hypoplasia/aplasia associated with cleidocranial dysplasia.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 399, doi. 10.1002/pd.858
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- Publication type:
- Article
15
Assessment of cortical gyrus and sulcus formation using magnetic resonance images in small-for-gestational-age fetuses.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 333, doi. 10.1002/pd.869
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- Publication type:
- Article
16
Identification of two mutations for ataxia telangiectasia among the Druze community.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 358, doi. 10.1002/pd.874
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- Publication type:
- Article
17
Another case of autosomal dominant exstrophy of the bladder.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 375, doi. 10.1002/pd.879
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- Publication type:
- Article