Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Works matching IS 01973851 AND DT 2000 AND VI 20 AND IP 12
Results: 21
1
2
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
- Published in:
- 2000
- By:
- Publication type:
- journal article
3
Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis.
- Published in:
- 2000
- By:
- Publication type:
- journal article
4
Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 947, doi. 10.1002/1097-0223(200012)20:12<947::AID-PD957>3.0.CO;2-X
- By:
- Publication type:
- Article
5
Current Awareness.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1021, doi. 10.1002/1097-0223(200012)20:12<1021::AID-PD836>3.0.CO;2-S
- Publication type:
- Article
6
MASA syndrome: ultrasonographic evidence in a male fetus.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1012, doi. 10.1002/1097-0223(200012)20:12<1012::AID-PD963>3.0.CO;2-X
- By:
- Publication type:
- Article
7
Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 956, doi. 10.1002/1097-0223(200012)20:12<956::AID-PD956>3.0.CO;2-Y
- By:
- Publication type:
- Article
8
Prenatal diagnosis of limb-body wall complex using two- and three-dimensional ultrasound.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1020, doi. 10.1002/1097-0223(200012)20:12<1020::AID-PD909>3.0.CO;2-K
- By:
- Publication type:
- Article
9
Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 996, doi. 10.1002/1097-0223(200012)20:12<996::AID-PD951>3.0.CO;2-0
- By:
- Publication type:
- Article
10
Urinary hyperglycosylated hCG in first trimester screening for chromosomal abnormalities.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 976, doi. 10.1002/1097-0223(200012)20:12<976::AID-PD962>3.0.CO;2-2
- By:
- Publication type:
- Article
11
Cost-effective screening methods for various single gene defects in single cells using high magnesium and total ionic strength and restriction enzymes.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 979, doi. 10.1002/1097-0223(200012)20:12<979::AID-PD966>3.0.CO;2-O
- By:
- Publication type:
- Article
12
Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 999, doi. 10.1002/1097-0223(200012)20:12<999::AID-PD948>3.0.CO;2-E
- By:
- Publication type:
- Article
13
Four years' cytogenetic experience with the culture of chorionic villi.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 950, doi. 10.1002/1097-0223(200012)20:12<950::AID-PD959>3.0.CO;2-V
- By:
- Publication type:
- Article
14
Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 992, doi. 10.1002/1097-0223(200012)20:12<992::AID-PD950>3.0.CO;2-7
- By:
- Publication type:
- Article
15
Correlation of prenatal clinical findings with those observed in fetal autopsies: pathological approach.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 970, doi. 10.1002/1097-0223(200012)20:12<970::AID-PD961>3.0.CO;2-B
- By:
- Publication type:
- Article
16
Quality control in components of comparative genomic hybridization technique used for diagnostic cytogenetic analysis.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1019, doi. 10.1002/1097-0223(200012)20:12<1019::AID-PD972>3.0.CO;2-S
- By:
- Publication type:
- Article
17
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1008, doi. 10.1002/1097-0223(200012)20:12<1008::AID-PD954>3.0.CO;2-S
- By:
- Publication type:
- Article
18
Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years' experience.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 986, doi. 10.1002/1097-0223(200012)20:12<986::AID-PD965>3.0.CO;2-R
- By:
- Publication type:
- Article
19
Risks of genetic amniocentesis in women less than 35 years old.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1018, doi. 10.1002/1097-0223(200012)20:12<1018::AID-PD958>3.0.CO;2-D
- By:
- Publication type:
- Article
20
High maternal serum inhibin A levels following the loss of one fetus in a twin pregnancy.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1015, doi. 10.1002/1097-0223(200012)20:12<1015::AID-PD960>3.0.CO;2-2
- By:
- Publication type:
- Article
21
Prenatal MRI in a fetus with a giant neck hemangioma: a case report.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 12, p. 1004, doi. 10.1002/1097-0223(200012)20:12<1004::AID-PD953>3.0.CO;2-Z
- By:
- Publication type:
- Article