Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer.

Genetic epidemiology·2000

Associations of clinical features in neurofibromatosis 1 (NF1).

Genetic epidemiology·2000

Malignant peripheral nerve sheath tumors in neurofibromatosis 1.

American journal of medical genetics·2000

Modern medicine; modern consumerism.

Administrative radiology journal : AR·1999

Hair whorl as an indicator of a mediastinal plexiform neurofibroma.

Pediatric dermatology·1997

Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues.

Genetic epidemiology·1997

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

American journal of human genetics·2026

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

American journal of human genetics·2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

American journal of human genetics·2026

Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.

American journal of human genetics·2026

Shared genetic basis and structure of syndromic and normal facial variation.

American journal of human genetics·2026

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

American journal of human genetics·2026

Tetrahedral DNA-guided catalytic hairpin assembly for reference-calibrated intracellular microRNA imaging and sensing.

The Analyst·2026

Hierarchical MOF-derived ZnFe2O4 as an efficient and sustainable heterogeneous catalyst for C-O and C-N cross-coupling reactions.

Dalton transactions (Cambridge, England : 2003)·2026

Unpassivated edges as gateways to collision-driven topological transformations in finite graphene nanoflakes.

The European physical journal. D, Atomic, molecular, and optical physics·2026

Self-Assembly of Hierarchically Structured Materials From Liquid Crystalline Mesophases of Tobacco Mosaic Virus-Like Particles.

Small (Weinheim an der Bergstrasse, Germany)·2026

Flexible Cellulose Nanofibril-Based Surface-Enhanced Raman Scattering Substrate via Silver-Ammonia-Mediated In SituPhotoreduction for Pesticide Residue Detection and Full-Spectrum Thiram Quantification.

ACS applied materials & interfaces·2026

Rewiring the ribosome to translate proteins encoded in its own RNA.

Nature·2026

Related Experiment Videos

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

Related Concept Videos

Neoplasms in neurofibromatosis 1 are related to gender but not to family history of cancer.

Associations of clinical features in neurofibromatosis 1 (NF1).

Malignant peripheral nerve sheath tumors in neurofibromatosis 1.

Modern medicine; modern consumerism.

Hair whorl as an indicator of a mediastinal plexiform neurofibroma.

Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.

Shared genetic basis and structure of syndromic and normal facial variation.

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

Tetrahedral DNA-guided catalytic hairpin assembly for reference-calibrated intracellular microRNA imaging and sensing.

Hierarchical MOF-derived ZnFe2O4 as an efficient and sustainable heterogeneous catalyst for C-O and C-N cross-coupling reactions.

Unpassivated edges as gateways to collision-driven topological transformations in finite graphene nanoflakes.

Self-Assembly of Hierarchically Structured Materials From Liquid Crystalline Mesophases of Tobacco Mosaic Virus-Like Particles.

Flexible Cellulose Nanofibril-Based Surface-Enhanced Raman Scattering Substrate via Silver-Ammonia-Mediated In SituPhotoreduction for Pesticide Residue Detection and Full-Spectrum Thiram Quantification.

Rewiring the ribosome to translate proteins encoded in its own RNA.

Related Experiment Videos

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

Related Concept Videos

Related Articles