Tetra-/di-nucleotide repeat polymorphism upstream of the human alpha 2-globin gene locus at 16p13.3

The DNA sequence and comparative analysis of human chromosome 10.

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Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.

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Biochimica et biophysica acta·2001

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X.

Nature·2001

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.

Clinical genetics·1998

Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling.

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Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

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Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

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Journal of Alzheimer's disease : JAD·2026

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Circulation. Cardiovascular imaging·2026

A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review.

Frontiers in genetics·2026

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Frontiers in cell and developmental biology·2026

Related Experiment Videos

Tetra-/di-nucleotide repeat polymorphism upstream of the human alpha 2-globin gene locus at 16p13.3

Related Concept Videos

The DNA sequence and comparative analysis of human chromosome 10.

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.

neuralized Encodes a peripheral membrane protein involved in delta signaling and endocytosis.

ZNF232: structure and expression analysis of a novel human C(2)H(2) zinc finger gene, member of the SCAN/LeR domain subfamily.

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X.

Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients.

Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling.

Polygenic risk scores in human genetics for study design discovery and translation.

Genetic variation in BDNF is associated with opioid use disorder severity.

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP).

Combating of hippocampal neuroinflammatory response by folic acid: helpful prospective in autistic-like phenotype induced following maternal separation stress.

APOE-centered transcriptional convergence underlying diverse dementia subtypes.

Novel Transvalvular Flow Criteria Reduce Indeterminate Stress Echocardiography and Refine Risk Stratification in Low-Gradient Aortic Stenosis.

A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review.

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Related Experiment Videos

Tetra-/di-nucleotide repeat polymorphism upstream of the human alpha 2-globin gene locus at 16p13.3

Abstract:

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