Works matching IS 16618769 AND DT 2017 AND VI 8 AND IP 6
Results: 8
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 325, doi. 10.1159/000479455
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- Article
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 318, doi. 10.1159/000479721
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- Article
A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 313, doi. 10.1159/000479673
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- Article
Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 308, doi. 10.1159/000479357
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- Article
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 303, doi. 10.1159/000479672
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- Article
Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 294, doi. 10.1159/000479859
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- Article
Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 282, doi. 10.1159/000479666
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- Article
Neocentromeres to the Rescue of Acentric Chromosome Fragments.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 279, doi. 10.1159/000481332
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- Article