Found: 19
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The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1053, doi. 10.3390/genes15081053
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- Publication type:
- Article
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1016, doi. 10.3390/genes15081016
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- Publication type:
- Article
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 10, p. 3691, doi. 10.1007/s00431-022-04574-w
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- Publication type:
- Article
UBE3A, c.1347_1348delGA: a mutation in question.
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 225, doi. 10.1159/000527777
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- Publication type:
- Article
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 321, doi. 10.1159/000516635
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- Publication type:
- Article
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1519, doi. 10.3390/genes14081519
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- Publication type:
- Article
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1490, doi. 10.3390/genes14071490
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- Publication type:
- Article
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5644, doi. 10.3390/ijms25115644
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- Publication type:
- Article
Distribution of serum lipids and lipoproteins in patients with beta thalassaemia major; an epidemiological study in young adults from Greece.
- Published in:
- Lipids in Health & Disease, 2004, v. 3, p. 3, doi. 10.1186/1476-511X-3-3
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- Publication type:
- Article
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
- Published in:
- Children, 2024, v. 11, n. 6, p. 705, doi. 10.3390/children11060705
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- Publication type:
- Article
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
- Published in:
- 2012
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- Publication type:
- journal article
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 4, p. 395, doi. 10.1002/humu.22758
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- Publication type:
- Article
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD),borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion.
- Published in:
- 2016
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- Publication type:
- Case Study
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3563, doi. 10.1002/ajmg.a.62971
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- Publication type:
- Article
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2561, doi. 10.1002/ajmg.a.62338
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- Publication type:
- Article
Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 666, doi. 10.1002/ajmg.a.36346
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- Publication type:
- Article
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 2, p. 240, doi. 10.1002/mus.28180
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- Publication type:
- Article
Novel and known nephrin gene ( NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.
- Published in:
- Journal of Genetics, 2013, v. 92, n. 3, p. 577, doi. 10.1007/s12041-013-0290-7
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- Publication type:
- Article