Front & Back Matter.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 1, doi. 10.1159/000540813
- Publication type:
- Article
Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 4
Results: 14
1
2
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 275, doi. 10.1159/000537831
- By:
- Publication type:
- Article
3
A Case of Lateral Meningocele Syndrome without Lateral Meningoceles.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 328, doi. 10.1159/000536632
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- Publication type:
- Article
4
COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 311, doi. 10.1159/000536344
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- Publication type:
- Article
5
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 289, doi. 10.1159/000536434
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- Publication type:
- Article
6
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 317, doi. 10.1159/000536343
- By:
- Publication type:
- Article
7
A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 347, doi. 10.1159/000537952
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- Publication type:
- Article
8
Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 333, doi. 10.1159/000536676
- By:
- Publication type:
- Article
9
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 303, doi. 10.1159/000536295
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- Publication type:
- Article
10
Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 339, doi. 10.1159/000536574
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- Publication type:
- Article
11
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 284, doi. 10.1159/000536386
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- Publication type:
- Article
12
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 324, doi. 10.1159/000536420
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- Publication type:
- Article
13
Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 297, doi. 10.1159/000536183
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- Publication type:
- Article
14
Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 4, p. 269, doi. 10.1159/000536016
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- Publication type:
- Article