Genetic counselling and the new genetics

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

Journal of medical genetics·1992

A recombinant-based feline immunodeficiency virus antibody enzyme-linked immunosorbent assay.

Veterinary immunology and immunopathology·1992

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

Journal of medical genetics·1992

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group.

American journal of epidemiology·1992

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. I. Methods. Collaborative Ovarian Cancer Group.

American journal of epidemiology·1992

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. IV. The pathogenesis of epithelial ovarian cancer. Collaborative Ovarian Cancer Group.

American journal of epidemiology·1992

Post-transcriptional regulation of allele-specific expression.

Trends in genetics : TIG·2026

B chromosomes put the 'super' in supernumerary.

Trends in genetics : TIG·2026

Olduvai domains: humanity's lucky brake.

Trends in genetics : TIG·2026

A blind spot in lncRNA discovery.

Trends in genetics : TIG·2026

Transcription in check at DNA double-strand breaks.

Trends in genetics : TIG·2026

Beyond gene expression: Single-cell transcriptomics at isoform resolution.

Trends in genetics : TIG·2026

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Frontiers in genetics·2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Frontiers in pediatrics·2026

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Seizure·2026

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Genetic counselling and the new genetics

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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

A recombinant-based feline immunodeficiency virus antibody enzyme-linked immunosorbent assay.

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group.

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. I. Methods. Collaborative Ovarian Cancer Group.

Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. IV. The pathogenesis of epithelial ovarian cancer. Collaborative Ovarian Cancer Group.

Post-transcriptional regulation of allele-specific expression.

B chromosomes put the 'super' in supernumerary.

Olduvai domains: humanity's lucky brake.

A blind spot in lncRNA discovery.

Transcription in check at DNA double-strand breaks.

Beyond gene expression: Single-cell transcriptomics at isoform resolution.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

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Genetic counselling and the new genetics

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