Genetic homogeneity of the Camurati-Engelmann disease

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Clinical genetics·2026

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Clinical genetics·2026

Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.

Clinical genetics·2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Clinical genetics·2026

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

Clinical genetics·2026

STOML1 as an Exploratory Candidate Gene for Autosomal Dominant Iris and Chorioretinal Coloboma in a British Family.

Genes·2026

BSA-Seq-Based QTL Mapping for the Height of the First Fruiting Branch Node of Cotton and the Development of Molecular Markers.

Genes·2026

Genetic Prioritization of Plasma Proteins Across Dementia Subtypes: A Proteome-Wide Mendelian Randomization and Bayesian Colocalization Analysis.

Cellular and molecular neurobiology·2026

Genetic covariance between plant biparental populations: concept and estimation.

Heredity·2026

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

iScience·2026

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Journal of equine science·2026

Related Experiment Videos

Genetic homogeneity of the Camurati-Engelmann disease

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Loss-Of-Function CCM Gene Variants in Japanese Patients With Cerebral Cavernous Malformations.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Childhood-Onset Filamin c Related Cardiomyopathy: Genotype-Phenotype Correlation and Outcome.

STOML1 as an Exploratory Candidate Gene for Autosomal Dominant Iris and Chorioretinal Coloboma in a British Family.

BSA-Seq-Based QTL Mapping for the Height of the First Fruiting Branch Node of Cotton and the Development of Molecular Markers.

Genetic Prioritization of Plasma Proteins Across Dementia Subtypes: A Proteome-Wide Mendelian Randomization and Bayesian Colocalization Analysis.

Genetic covariance between plant biparental populations: concept and estimation.

T2T-CHM13 reference genome reduces mapping bias and enhances alignment accuracy at disease-associated variants.

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

Related Experiment Videos

Genetic homogeneity of the Camurati-Engelmann disease

Related Concept Videos

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