Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 3
Results: 11
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 194, doi. 10.1159/000514122
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- Article
Front & Back Matter.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 1, doi. 10.1159/000517576
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- Article
Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 148, doi. 10.1159/000514282
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Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 141, doi. 10.1159/000514125
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- Article
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 133, doi. 10.1159/000513829
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- Article
Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 179, doi. 10.1159/000513611
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- Article
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 186, doi. 10.1159/000513583
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- Article
Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 174, doi. 10.1159/000513524
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- Article
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 159, doi. 10.1159/000513453
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- Article
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 169, doi. 10.1159/000513384
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- Article
Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue.
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- Molecular Syndromology, 2021, v. 12, n. 3, p. 154, doi. 10.1159/000513326
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- Article