A ring-4 chromosome in a patient with normal intelligence and short stature

Prominent pancreatic endocrinopathy and altered control of food intake disrupt energy homeostasis in prion diseases.

The Journal of endocrinology·2008

Expression of AMPA receptor subunits (GluR1-GluR4) in gonadotrophin-releasing hormone neurones of young and middle-aged persistently oestrous rats during the steroid-induced luteinising hormone surge.

Journal of neuroendocrinology·2006

Effects of sequential or group exposure to unrestrained estrual females on expression of sexual behavior in sexually experienced beef bulls.

Journal of animal science·2005

Effects of novel females and stage of the estrous cycle on sexual behavior in mature beef bulls.

Journal of animal science·2005

Effects of supplementing combinations of inorganic and complexed copper on performance and liver mineral status of beef heifers consuming antagonists.

Journal of animal science·2002

Growth hormone deficiency in autoimmune polyglandular disease type 1.

Saudi medical journal·2001

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

A Case of Pemphigus Herpetiformis in a 10-Year-Old Child.

Clinical, cosmetic and investigational dermatology·2026

Laparoscopic total colectomy in a patient with familial adenomatous polyposis and congenital intestinal nonrotation: a case report.

Journal of surgical case reports·2026

Takayasu Arteritis in a Child with Chronic Active Proctitis of Unspecified Etiology: A Case Report with Diagnostic Challenges and Literature Review.

Journal of visualized experiments : JoVE·2026

Congenital Absence of the Inferior Vena Cava Presenting as Extensive Deep Vein Thrombosis in a Young Male: A Case Report and Review.

Journal of community hospital internal medicine perspectives·2026

Impact of reference interval source on result classification in pediatric coagulation testing.

Clinica chimica acta; international journal of clinical chemistry·2026

Surgically managed paediatric external jugular vein pseudoaneurysm.

BMJ case reports·2026

Related Experiment Videos

A ring-4 chromosome in a patient with normal intelligence and short stature

Related Concept Videos

Prominent pancreatic endocrinopathy and altered control of food intake disrupt energy homeostasis in prion diseases.

Expression of AMPA receptor subunits (GluR1-GluR4) in gonadotrophin-releasing hormone neurones of young and middle-aged persistently oestrous rats during the steroid-induced luteinising hormone surge.

Effects of sequential or group exposure to unrestrained estrual females on expression of sexual behavior in sexually experienced beef bulls.

Effects of novel females and stage of the estrous cycle on sexual behavior in mature beef bulls.

Effects of supplementing combinations of inorganic and complexed copper on performance and liver mineral status of beef heifers consuming antagonists.

Growth hormone deficiency in autoimmune polyglandular disease type 1.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

A Case of Pemphigus Herpetiformis in a 10-Year-Old Child.

Laparoscopic total colectomy in a patient with familial adenomatous polyposis and congenital intestinal nonrotation: a case report.

Takayasu Arteritis in a Child with Chronic Active Proctitis of Unspecified Etiology: A Case Report with Diagnostic Challenges and Literature Review.

Congenital Absence of the Inferior Vena Cava Presenting as Extensive Deep Vein Thrombosis in a Young Male: A Case Report and Review.

Impact of reference interval source on result classification in pediatric coagulation testing.

Surgically managed paediatric external jugular vein pseudoaneurysm.

Related Experiment Videos

A ring-4 chromosome in a patient with normal intelligence and short stature

Related Concept Videos

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