Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Works matching IS 20906544 AND DT 2025 AND VI 2025
Results: 10
1
2
Corrigendum to "A Fatal Case of 3‐Hydroxyisobutyryl‐CoA Hydrolase Deficiency in a Term Infant With Severe High Anion Gap Acidosis and Review of the Literature".
- Published in:
- Case Reports in Genetics, 2025, v. 2025, p. 1, doi. 10.1155/crig/9827627
- Publication type:
- Article
3
Paternal UPD (15) With Disease‐Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.
- Published in:
- Case Reports in Genetics, 2025, v. 2025, p. 1, doi. 10.1155/crig/4973753
- By:
- Publication type:
- Article
4
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
5
Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole‐Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
6
A Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
7
Dual Diagnosis of Fragile X Syndrome and DEPDC5‐Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
8
Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
9
Novel CLCNKB Mutation in Two Siblings With Classic Bartter Syndrome.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
10
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
- Published in:
- 2025
- By:
- Publication type:
- Case Study