Found: 22
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Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 423, doi. 10.1007/s00439-007-0412-5
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- Publication type:
- Article
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 3, p. 267, doi. 10.1111/cge.12154
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- Publication type:
- Article
Myo-inositol in Down syndrome amniotic fluid. A case-control study.
- Published in:
- 2014
- By:
- Publication type:
- Other
Array CGH in routine prenatal diagnosis practice.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 708, doi. 10.1002/pd.3845
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- Publication type:
- Article
Prenatal diagnosis of X chromosome monosomy.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 10, p. 992, doi. 10.1002/pd.1563
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- Publication type:
- Article
Prenatal exclusion of cleidocranial dysplasia.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 11, p. 945, doi. 10.1002/pd.718
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- Publication type:
- Article
A case of neonatal Jeune syndrome expanding the phenotype.
- Published in:
- Clinical Case Reports, 2014, v. 2, n. 4, p. 156, doi. 10.1002/ccr3.85
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- Publication type:
- Article
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 579, doi. 10.1038/sj.ejhg.5201200
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- Publication type:
- Article
DNA methylation variations in familial female and male breast cancer.
- Published in:
- Oncology Letters, 2021, v. 21, n. 6, p. N.PAG, doi. 10.3892/ol.2021.12729
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- Publication type:
- Article
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 11, p. 2581, doi. 10.1007/s10815-022-02653-3
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- Publication type:
- Article
Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy.
- Published in:
- International Journal of Endocrinology, 2017, p. 1, doi. 10.1155/2017/5846286
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- Publication type:
- Article
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases.
- Published in:
- Genes, Chromosomes & Cancer, 1996, v. 17, n. 2, p. 94, doi. 10.1002/(SICI)1098-2264(199610)17:2<94::AID-GCC4>3.0.CO;2-W
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- Publication type:
- Article
Anti-HIV Screening of Blood Donors.
- Published in:
- Vox Sanguinis, 1994, v. 67, n. 4, p. 404, doi. 10.1111/j.1423-0410.1994.tb01282.x
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- Publication type:
- Article
First trimester diagnosis of iniencephaly associated with fetal malformations and trisomy 18: Report of a new case and gene analysis on folate metabolism in parents.
- Published in:
- Congenital Anomalies, 2007, v. 47, n. 3, p. 101, doi. 10.1111/j.1741-4520.2007.00154.x
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- Publication type:
- Article
Dual analyte screening for fetal Down syndrome in pregnant women over 35 years of age.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 6, p. 637, doi. 10.1002/(SICI)1097-0223(199806)18:6<637::AID-PD295>3.0.CO;2-X
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- Publication type:
- Article
Two-analyte assay for Down syndrome screening.
- Published in:
- 1995
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- Publication type:
- letter
d-Chiro-Inositol in Clinical Practice: A Perspective from the Experts Group on Inositol in Basic and Clinical Research (EGOI).
- Published in:
- Gynecologic & Obstetric Investigation, 2024, v. 89, n. 4, p. 284, doi. 10.1159/000536081
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- Publication type:
- Article
Corrigendum to “Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy”.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
- Published in:
- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-45
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- Publication type:
- Article
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 5912, doi. 10.3390/ijms23115912
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- Publication type:
- Article
Inositols: From Established Knowledge to Novel Approaches.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10575, doi. 10.3390/ijms221910575
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- Publication type:
- Article