Hyperglycinuria in a family with autosomal dominantly inherited cataract

Growth hormone therapy with three dosage regimens in children with idiopathic short stature. European Study Group Participating Investigators.

The Journal of pediatrics·1998

Collagen metabolites in the prediction of response to GH therapy in short children.

European journal of endocrinology·1998

Relationship between caries and level of metabolic balance in children and adolescents with insulin-dependent diabetes mellitus.

Caries research·1997

Salivary factors in children and adolescents with insulin-dependent diabetes mellitus.

Pediatric dentistry·1996

A prospective, longitudinal study examining the development of retinopathy in children with diabetes.

Acta paediatrica (Oslo, Norway : 1992)·1996

Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency.

The Journal of pediatrics·1995

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

The periphery of nuclear speckles defines a spatially and temporally regulated compartment of long-lived intron-retained RNAs that resolves during mitosis.

Nature cell biology·2026

Whole-genome sequencing identifies a c.1282C > T missense variant in Taurine Transporter (TauT) associated with taurine-mediated dilated cardiomyopathy in a family of domestic shorthair cats.

Journal of molecular and cellular cardiology·2026

Mitochondrial genome characteristics and phylogenetic analysis of Ramaria longispora.

Mitochondrial DNA. Part B, Resources·2026

Integrative modeling of the genome structure and dynamics in fission yeast.

Proceedings of the National Academy of Sciences of the United States of America·2026

A Dynamic Model of Weekly Sleep Timing: Endogenous Origins of Social Jetlag.

Nature and science of sleep·2026

Replication stress links Geminin depletion to centrosome amplification.

bioRxiv : the preprint server for biology·2026

Related Experiment Videos

Hyperglycinuria in a family with autosomal dominantly inherited cataract

Related Concept Videos

Growth hormone therapy with three dosage regimens in children with idiopathic short stature. European Study Group Participating Investigators.

Collagen metabolites in the prediction of response to GH therapy in short children.

Relationship between caries and level of metabolic balance in children and adolescents with insulin-dependent diabetes mellitus.

Salivary factors in children and adolescents with insulin-dependent diabetes mellitus.

A prospective, longitudinal study examining the development of retinopathy in children with diabetes.

Hypercalcemia and nephrocalcinosis in patients with congenital lactase deficiency.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

The periphery of nuclear speckles defines a spatially and temporally regulated compartment of long-lived intron-retained RNAs that resolves during mitosis.

Whole-genome sequencing identifies a c.1282C > T missense variant in Taurine Transporter (TauT) associated with taurine-mediated dilated cardiomyopathy in a family of domestic shorthair cats.

Mitochondrial genome characteristics and phylogenetic analysis of Ramaria longispora.

Integrative modeling of the genome structure and dynamics in fission yeast.

A Dynamic Model of Weekly Sleep Timing: Endogenous Origins of Social Jetlag.

Replication stress links Geminin depletion to centrosome amplification.

Related Experiment Videos

Hyperglycinuria in a family with autosomal dominantly inherited cataract

Related Concept Videos

Related Articles