Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 4
Results: 9
Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 219, doi. 10.1159/000475795
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- Article
A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 211, doi. 10.1159/000473693
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- Article
Cantú Syndrome Associated with Ovarian Agenesis.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 206, doi. 10.1159/000471247
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- Article
ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 201, doi. 10.1159/000470025
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- Article
A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 195, doi. 10.1159/000476020
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- Article
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 187, doi. 10.1159/000477084
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- Article
Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 179, doi. 10.1159/000471992
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- Article
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 172, doi. 10.1159/000472408
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- Article
The Age of the Father.
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- Molecular Syndromology, 2017, v. 8, n. 4, p. 169, doi. 10.1159/000471776
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- Article