The trisomy 21 and the trisomy 17-18 syndromes in siblings

Solar disinfection of water for diarrhoeal prevention in southern India.

Archives of disease in childhood·2006

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome.

Journal of medical genetics·2005

Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins.

Journal of internal medicine·2004

Hereditary transthyretin amyloidosis from a Scandinavian perspective.

Journal of internal medicine·2003

Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1.

Neurology·2002

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

European journal of human genetics : EJHG·2002

A frequentist test of proportional colocalization after selecting relevant genetic variants.

Human heredity·2026

Investigation of the Effects of Noncoding LDLR Variants on Hyperlipidaemia risk.

Human heredity·2026

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Human heredity·2026

Erratum.

Human heredity·2026

Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population.

Human heredity·2025

Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Human heredity·2025

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

Frontiers in genetics·2026

GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report.

Case reports in genetics·2026

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

The Journal of clinical endocrinology and metabolism·2026

Progenitor Timing Shapes NG2-Glia Fate and Oligodendrocyte Differentiation.

Glia·2026

Fraternal Birth Order Effect and Other Sibship Effects in Bisexual and Asexual Men and Women.

Archives of sexual behavior·2026

Correlation analysis of cognitive dysfunction and fluctuations in serum fibroblast growth factor 21 (FGF21) levels in the overweight group.

Journal of medical biochemistry·2026

Related Experiment Videos

The trisomy 21 and the trisomy 17-18 syndromes in siblings

Related Concept Videos

Solar disinfection of water for diarrhoeal prevention in southern India.

Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome.

Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins.

Hereditary transthyretin amyloidosis from a Scandinavian perspective.

Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1.

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

A frequentist test of proportional colocalization after selecting relevant genetic variants.

Investigation of the Effects of Noncoding LDLR Variants on Hyperlipidaemia risk.

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Erratum.

Exploratory Analysis of HMGB1 Genetic Variants and Their Potential Association with Lung Cancer Susceptibility and Chemotherapy Response in a Chinese Population.

Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report.

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

Progenitor Timing Shapes NG2-Glia Fate and Oligodendrocyte Differentiation.

Fraternal Birth Order Effect and Other Sibship Effects in Bisexual and Asexual Men and Women.

Correlation analysis of cognitive dysfunction and fluctuations in serum fibroblast growth factor 21 (FGF21) levels in the overweight group.

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The trisomy 21 and the trisomy 17-18 syndromes in siblings

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