A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 61, doi. 10.1159/000540325
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2025 AND VI 16 AND IP 1
Results: 14
1
2
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 1, doi. 10.1159/000544017
- Publication type:
- Article
3
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 87, doi. 10.1159/000541167
- By:
- Publication type:
- Article
4
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 11, doi. 10.1159/000540454
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- Publication type:
- Article
5
Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 77, doi. 10.1159/000540377
- By:
- Publication type:
- Article
6
Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 1, doi. 10.1159/000540339
- By:
- Publication type:
- Article
7
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 93, doi. 10.1159/000541285
- By:
- Publication type:
- Article
8
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 69, doi. 10.1159/000540314
- By:
- Publication type:
- Article
9
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 55, doi. 10.1159/000540207
- By:
- Publication type:
- Article
10
A Case of Opsismodysplasia with a Novel INPPL1 Variant.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 49, doi. 10.1159/000540189
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- Publication type:
- Article
11
A Novel Loss-of-Function Variant in COL4A3 in a Consanguineous Moroccan Family Displaying the Alport Syndrome with Variable Clinical Expression.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 43, doi. 10.1159/000540122
- By:
- Publication type:
- Article
12
Homozygous Intragenic Deletion in WDR62 in Siblings with Primary Microcephaly.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 33, doi. 10.1159/000540108
- By:
- Publication type:
- Article
13
Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 38, doi. 10.1159/000540088
- By:
- Publication type:
- Article
14
PACS2, PACS1, and VACTERL: A Clinical Overlap.
- Published in:
- Molecular Syndromology, 2025, v. 16, n. 1, p. 29, doi. 10.1159/000539473
- By:
- Publication type:
- Article