Found: 20
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A Rare Case of a Male with 45, XO, SRY+, ZFY+ with Short Stature and Mild Turner Stiqmata.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 2, p. 127, doi. 10.1159/000339157
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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
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review.
- Published in:
- Children, 2023, v. 10, n. 11, p. 1812, doi. 10.3390/children10111812
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- Publication type:
- Article
Heterozygosity of the Complex Corfu δ 0 β + Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 3, p. 432, doi. 10.3390/biology11030432
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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
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
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
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 12, p. 2249, doi. 10.1002/pbc.25183
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- Publication type:
- Article
Clinical Phenotype and Genetic Analysis of RPS19, RPL5, and RPL11 Genes in Greek Patients With Diamond Blackfan Anemia.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, p. 2249, doi. 10.1002/pbc.25183
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- Publication type:
- Article
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
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- Publication type:
- Article
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 513, doi. 10.1002/humu.20022
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- Publication type:
- Article
Cantú Syndrome Associated with Ovarian Agenesis.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 4, p. 206, doi. 10.1159/000471247
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- Publication type:
- Article
Molecular investigation of Angelman syndrome in Greece. Screening for UBE3A mutations: preliminary results.
- Published in:
- Annals of General Psychiatry, 2008, v. 7, p. 1, doi. 10.1186/1744-859X-7-S1-S333
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- Publication type:
- Article
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
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0173-2
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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
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3400, doi. 10.3390/ijms25063400
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- Publication type:
- Article
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15507, doi. 10.3390/ijms232415507
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- Publication type:
- Article