Partial trisomy of the long arm of chromosome No. 7

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Journal of inherited metabolic disease·2003

Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients.

Clinica chimica acta; international journal of clinical chemistry·1995

Biochemical and molecular studies of 132 patients with galactosemia.

Human genetics·1994

Results of a survey of carrier women for the galactosemia gene.

Fertility and sterility·1993

Galactosemia: evaluation with MR imaging.

Radiology·1992

Verbal dyspraxia in treated galactosemia.

Pediatrics·1991

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Diversity and Structural Composition of Bacterial Communities in Mineral Springs of the Andean-Amazonian Transition Zone in Northern Peru.

Microorganisms·2026

Contrasting Patterns of Soil Microbial Communities, Physicochemical Properties and Vegetation Characteristics Along Altitude and Soil Depths in an Alpine Ecosystem.

Biology·2026

Residence times of English estuaries.

Water research·2026

Mapping and dynamic monitoring of desertification on the Qinghai-Tibetan Plateau using surface Albedo and Solar-Induced Chlorophyll Fluorescence.

PloS one·2026

Twenty-two novel glacier Pseudomonas species expand cultivated representation: nitrogen-cycling potential and temperature-responsive proteomes.

ISME communications·2026

Spectrophotometric Study of Erbium(III) Speciation in Chloride Solutions from 25 to 75 °C.

ACS earth & space chemistry·2026

Related Experiment Videos

Partial trisomy of the long arm of chromosome No. 7

Related Concept Videos

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients.

Biochemical and molecular studies of 132 patients with galactosemia.

Results of a survey of carrier women for the galactosemia gene.

Galactosemia: evaluation with MR imaging.

Verbal dyspraxia in treated galactosemia.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Diversity and Structural Composition of Bacterial Communities in Mineral Springs of the Andean-Amazonian Transition Zone in Northern Peru.

Contrasting Patterns of Soil Microbial Communities, Physicochemical Properties and Vegetation Characteristics Along Altitude and Soil Depths in an Alpine Ecosystem.

Residence times of English estuaries.

Mapping and dynamic monitoring of desertification on the Qinghai-Tibetan Plateau using surface Albedo and Solar-Induced Chlorophyll Fluorescence.

Twenty-two novel glacier Pseudomonas species expand cultivated representation: nitrogen-cycling potential and temperature-responsive proteomes.

Spectrophotometric Study of Erbium(III) Speciation in Chloride Solutions from 25 to 75 °C.

Related Experiment Videos

Partial trisomy of the long arm of chromosome No. 7

Related Concept Videos

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