The Turner phenotype and the different types of human X isochromosome

Stimulated GH levels during the transition phase in Prader-Willi syndrome.

Journal of endocrinological investigation·2020

Anti-gastric parietal cell antibodies for autoimmune gastritis screening in juvenile autoimmune thyroid disease.

Journal of endocrinological investigation·2019

Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study.

Nutrition, metabolism, and cardiovascular diseases : NMCD·2016

Low mean impedance in 24-hour tracings and esophagitis in children: a strong connection.

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus·2014

Deep breathing acutely improves arterial dysfunction in obese children: evidence of functional impairment?

Nutrition, metabolism, and cardiovascular diseases : NMCD·2014

Growth factors and metabolic markers in cord blood: relationship to birth weight and length.

Journal of biological regulators and homeostatic agents·2014

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Human genetics·2026

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Human genetics·2026

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Liver disease reveals KIF12 as a regulator of mitochondria, lysosome and cilia localisation in human cholangiocytes.

EBioMedicine·2026

Transgenerational chromosome repair in the asexual bdelloid rotifer Adineta vaga.

Science advances·2026

Site-Specific Measurement of Meiotic Crossing-Over Rate with Droplet Digital PCR.

Cold Spring Harbor protocols·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

Related Experiment Videos

The Turner phenotype and the different types of human X isochromosome

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Stimulated GH levels during the transition phase in Prader-Willi syndrome.

Anti-gastric parietal cell antibodies for autoimmune gastritis screening in juvenile autoimmune thyroid disease.

Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study.

Low mean impedance in 24-hour tracings and esophagitis in children: a strong connection.

Deep breathing acutely improves arterial dysfunction in obese children: evidence of functional impairment?

Growth factors and metabolic markers in cord blood: relationship to birth weight and length.

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Liver disease reveals KIF12 as a regulator of mitochondria, lysosome and cilia localisation in human cholangiocytes.

Transgenerational chromosome repair in the asexual bdelloid rotifer Adineta vaga.

Site-Specific Measurement of Meiotic Crossing-Over Rate with Droplet Digital PCR.

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.

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The Turner phenotype and the different types of human X isochromosome

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