Liver glycogenosis and phosphorylase kinase deficiency

Quantitative first-principles calculations of valence and core excitation spectra of solid C60.

Physical review. B·2017

Screening of male patients with autism spectrum disorder for creatine transporter deficiency.

Neuropediatrics·2008

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

Neurology·2005

Synthesis of highly nitrogen-doped multi-walled carbon nanotubes.

Chemical communications (Cambridge, England)·2003

Congenital creatine transporter deficiency.

Neuropediatrics·2003

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.

American journal of respiratory and critical care medicine·2001

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

Pomegranate peel supplementation improves performance and lipid metabolism in laying hens.

Archives animal breeding·2026

Shotgun proteomic analysis of quail liver under feed deprivation and low-energy diet conditions.

Veterinary and animal science·2026

Alpha-ketoglutarate supplementation ameliorates castor oil-induced diarrhea in mice: in silico and in vivo insights.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas·2026

Effects of feeding a Bacillus-based probiotic on feed intake, performance, carcass traits, and health of crossbred beef cattle fed sodium monensin and high-moisture corn-based diets during finishing.

Translational animal science·2026

Dietary sunflower hulls and protein levels affect performance, gut health, and litter quality in broiler chickens.

Veterinary and animal science·2026

Dietary milk thistle meal supplementation modulates gut microbiota and improves performance and egg quality in late-phase laying hens.

Frontiers in microbiology·2026

Related Experiment Videos

Liver glycogenosis and phosphorylase kinase deficiency

Related Concept Videos

Quantitative first-principles calculations of valence and core excitation spectra of solid C60.

Screening of male patients with autism spectrum disorder for creatine transporter deficiency.

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

Synthesis of highly nitrogen-doped multi-walled carbon nanotubes.

Congenital creatine transporter deficiency.

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.

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.

Pomegranate peel supplementation improves performance and lipid metabolism in laying hens.

Shotgun proteomic analysis of quail liver under feed deprivation and low-energy diet conditions.

Alpha-ketoglutarate supplementation ameliorates castor oil-induced diarrhea in mice: in silico and in vivo insights.

Effects of feeding a Bacillus-based probiotic on feed intake, performance, carcass traits, and health of crossbred beef cattle fed sodium monensin and high-moisture corn-based diets during finishing.

Dietary sunflower hulls and protein levels affect performance, gut health, and litter quality in broiler chickens.

Dietary milk thistle meal supplementation modulates gut microbiota and improves performance and egg quality in late-phase laying hens.

Related Experiment Videos

Liver glycogenosis and phosphorylase kinase deficiency

Related Concept Videos

Related Articles