Found: 14
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Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 2, p. 271, doi. 10.1002/uog.27450
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- Publication type:
- Article
Two different prenatal imaging cerebral patterns of tubulinopathy.
- Published in:
- 2021
- By:
- Publication type:
- case study
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
- Published in:
- Neurogenetics, 2008, v. 9, n. 2, p. 143, doi. 10.1007/s10048-008-0123-7
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- Publication type:
- Article
Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis.
- Published in:
- Genes & Immunity, 2003, v. 4, n. 7, p. 518, doi. 10.1038/sj.gene.6364009
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- Publication type:
- Article
Statistical method to compare massive parallel sequencing pipelines.
- Published in:
- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-017-1552-9
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- Publication type:
- Article
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 1, p. 112, doi. 10.1111/cge.12907
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- Publication type:
- Article
Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: An umbrella review and a meta-epidemiological study.
- Published in:
- PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278839
- By:
- Publication type:
- Article
Trisomy 17 mosaicism in amniotic fluid cells not found at birth in blood but present in skin fibroblasts.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Chromosomal instability in two siblings with gonad deficiency: Case report.
- Published in:
- Human Reproduction, 2005, v. 20, n. 1, p. 158, doi. 10.1093/humrep/deh584
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- Publication type:
- Article
A genome-wide DNA methylation signature for SETD1B-related syndrome.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0749-3
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- Publication type:
- Article
The adult form of Niemann-Pick disease type C.
- Published in:
- 2007
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- Publication type:
- Journal Article
Acute myelitis in early Borrelia burgdorferi infection.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 10, p. 1472, doi. 10.1007/s00415-002-0854-6
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- Publication type:
- Article
Xp22.3 microdeletion includingVCX-AandVCX-B1genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.
- Published in:
- 2005
- By:
- Publication type:
- Letter
T-cell prolymphocytic leukemia with autoimmune manifestations in Nijmegen breakage syndrome.
- Published in:
- 2003
- By:
- Publication type:
- journal article