Channels - Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings :: FRELIP Discovery

Similar Items: Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings

Quick Look
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
Quick Look
PON1 (Paraoxonase 1) Q192R Gene Polymorphism in North Macedonian Population with Confirmed Coronary Artery Disease
Quick Look
Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
Quick Look
Partial Trisomy of Chromosome 9 Inherited by Adjacent Segregation 2 of a Balanced Reciprocal Translocation in the Mother: Rare Mechanism in Chromosomal Abnormalities
Quick Look
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
Quick Look
Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations
Quick Look
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
Quick Look
Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
Quick Look
Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature
Quick Look
Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
Quick Look
X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling
Quick Look
Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review
Quick Look
Qualitative and Quantitative Aspects of Discrepancies between Various Methods for Microsatellite Instability Detection
Quick Look
Flow Cytometry Multiplex Bead Array Technology and Its Immunological Clinical Applications in Covid-19 Era
Quick Look
The Expression Profile of Wnt/β-Catenin Signalling Pathway Genes in Miscarriages
Quick Look
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
Quick Look
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Quick Look
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion
Quick Look
Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
Quick Look
The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study
Quick Look
Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China
Quick Look
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases
Quick Look
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis
Quick Look
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement