Testing of children for "adult" genetic diseases

"It's being part of the big picture, even though you're a tiny jigsaw piece"-motivations and expectations of individuals participating in the Enroll-HD observational study.

Journal of community genetics·2020

Apathy predicts rate of cognitive decline over 24 months in premanifest Huntington's disease.

Psychological medicine·2020

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Clinical genetics·2016

Progression of motor subtypes in Huntington's disease: a 6-year follow-up study.

Journal of neurology·2016

A Method for Analyzing Videotaped Genetic Counseling Sessions.

Journal of genetic counseling·2015

Dysmorphology services: a snapshot of current practices and a vision for the future.

Clinical genetics·2015

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Perioperative durvalumab plus fluorouracil, leucovorin, oxaliplatin, and docetaxel for resectable gastric and gastro-oesophageal junction adenocarcinoma (MATTERHORN): final results of overall survival and event-free survival by pathological response in a global, randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Lancet (London, England)·2026

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

Biochemistry and biophysics reports·2026

Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review.

Global medical genetics·2026

The genome sequence of the Lesser noctule, Nyctalus leisleri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Wellcome open research·2026

Additional PAX3 Variants for Dominant Blue Eyes in Cats.

Animal genetics·2026

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

Pediatric dermatology·2026

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Pediatric blood & cancer·2026

Related Experiment Videos

Testing of children for "adult" genetic diseases

Related Concept Videos

"It's being part of the big picture, even though you're a tiny jigsaw piece"-motivations and expectations of individuals participating in the Enroll-HD observational study.

Apathy predicts rate of cognitive decline over 24 months in premanifest Huntington's disease.

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Progression of motor subtypes in Huntington's disease: a 6-year follow-up study.

A Method for Analyzing Videotaped Genetic Counseling Sessions.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant in GAN: A case report and literature review.

The genome sequence of the Lesser noctule, Nyctalus leisleri (Kuhl, 1817) (Chiroptera: Vespertilionidae).

Additional PAX3 Variants for Dominant Blue Eyes in Cats.

A Germline Missense Variant in the NSDHL Gene Underlies Inflammatory Linear Verrucous Epidermal Nevus.

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next-Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana.

Related Experiment Videos

Testing of children for "adult" genetic diseases

Related Concept Videos

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