Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 148, doi. 10.1159/000514282
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 3
Results: 11
1
2
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 1, doi. 10.1159/000517576
- Publication type:
- Article
3
Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 141, doi. 10.1159/000514125
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- Publication type:
- Article
4
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 194, doi. 10.1159/000514122
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- Publication type:
- Article
5
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 133, doi. 10.1159/000513829
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- Publication type:
- Article
6
Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 179, doi. 10.1159/000513611
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- Publication type:
- Article
7
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 186, doi. 10.1159/000513583
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- Publication type:
- Article
8
Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 174, doi. 10.1159/000513524
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- Publication type:
- Article
9
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 159, doi. 10.1159/000513453
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- Publication type:
- Article
10
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 169, doi. 10.1159/000513384
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- Publication type:
- Article
11
Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 154, doi. 10.1159/000513326
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- Publication type:
- Article