Cosmid 1-26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20]

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature communications·2019

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Molecular psychiatry·2012

Towards an evidence-based process for the clinical interpretation of copy number variation.

Clinical genetics·2011

Molecular cytogenetic analysis of telomere rearrangements.

Current protocols in human genetics·2008

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Journal of medical genetics·2005

Fifty-four new gene-based canine microsatellite markers.

The Journal of heredity·2005

The MODNAP benchmark set for modeling ribose-based modified nucleic acid and nucleic acid-protein complexes: a case study with AlphaFold 3.

Nucleic acids research·2026

Chemically stabilized long antisense oligonucleotides perturb RNA exosome function.

Nucleic acids research·2026

CLEAN Database: providing enzyme function coverage for over 55 million sequences.

Nucleic acids research·2026

DRAMP 5.0: an update integrating sequence and structure in a novel FASTS format for AI-driven design of antimicrobial peptides.

Nucleic acids research·2026

OAS-nano: the Observed VHH Space Database.

Nucleic acids research·2026

Structural basis of assembly-dependent activation of the MAD3-MAD4 nuclease in the Pseudomonas aeruginosa MADS defense system.

Nucleic acids research·2026

Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.

medRxiv : the preprint server for health sciences·2026

Genetic Spectrum and Family-Based Cascade Screening in Vietnamese Families With Autosomal Dominant Polycystic Kidney Disease.

Nephrology (Carlton, Vic.)·2026

Construction of an AI-Assisted Pedigree Mapping System for Hereditary Gynecological Tumors: Algorithm Development and Pilot Validation Study.

JMIR medical informatics·2026

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders.

Frontiers in bioinformatics·2026

Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.

BMC medical genomics·2026

Punctate Palmoplantar Keratoderma Type 1 With a Multigenerational Family History: A Case Report.

Cureus·2026

Related Experiment Videos

Cosmid 1-26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20]

Related Concept Videos

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Towards an evidence-based process for the clinical interpretation of copy number variation.

Molecular cytogenetic analysis of telomere rearrangements.

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Fifty-four new gene-based canine microsatellite markers.

The MODNAP benchmark set for modeling ribose-based modified nucleic acid and nucleic acid-protein complexes: a case study with AlphaFold 3.

Chemically stabilized long antisense oligonucleotides perturb RNA exosome function.

CLEAN Database: providing enzyme function coverage for over 55 million sequences.

DRAMP 5.0: an update integrating sequence and structure in a novel FASTS format for AI-driven design of antimicrobial peptides.

OAS-nano: the Observed VHH Space Database.

Structural basis of assembly-dependent activation of the MAD3-MAD4 nuclease in the Pseudomonas aeruginosa MADS defense system.

Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.

Genetic Spectrum and Family-Based Cascade Screening in Vietnamese Families With Autosomal Dominant Polycystic Kidney Disease.

Construction of an AI-Assisted Pedigree Mapping System for Hereditary Gynecological Tumors: Algorithm Development and Pilot Validation Study.

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders.

Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.

Punctate Palmoplantar Keratoderma Type 1 With a Multigenerational Family History: A Case Report.

Related Experiment Videos

Cosmid 1-26 defines four RFLPs on chromosome 17q23-qter [HGM9 No. D17S20]

Related Concept Videos

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