Autosomal dominant sneezing disorder provoked by fullness of stomach

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

Clinical and experimental rheumatology·2005

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Clinical genetics·2005

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Molecular genetics and metabolism·2004

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

Clinical genetics·2004

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Acta paediatrica (Oslo, Norway : 1992)·2003

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Clinical genetics·2002

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Impact of Aging, Sex, and Hypertension on Aortoiliac Hemodynamics: A 4-Dimensional Flow Magnetic Resonance Imaging Study.

Journal of the American Heart Association·2026

Associations of Physical Activity, Sedentary Behaviour, and Sleep with Somatotype Components and a Body Shape Index in Young Adults.

Journal of functional morphology and kinesiology·2026

Mapping sex-specific associations of adiposity with age-related cognitive decline and multimodal Alzheimer's pathology.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Heritability and rare variant contributions to Alzheimer disease in the Midwestern Amish.

medRxiv : the preprint server for health sciences·2026

AI-based characterization of Alzheimer's disease phenotypes from population-scale single-cell data.

Nature medicine·2026

Primary hyperaldosteronism in patient with Bardet-Biedl syndrome: unmasking secondary hypertension.

Endocrinology, diabetes & metabolism case reports·2026

Related Experiment Videos

Autosomal dominant sneezing disorder provoked by fullness of stomach

Related Concept Videos

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Impact of Aging, Sex, and Hypertension on Aortoiliac Hemodynamics: A 4-Dimensional Flow Magnetic Resonance Imaging Study.

Associations of Physical Activity, Sedentary Behaviour, and Sleep with Somatotype Components and a Body Shape Index in Young Adults.

Mapping sex-specific associations of adiposity with age-related cognitive decline and multimodal Alzheimer's pathology.

Heritability and rare variant contributions to Alzheimer disease in the Midwestern Amish.

AI-based characterization of Alzheimer's disease phenotypes from population-scale single-cell data.

Primary hyperaldosteronism in patient with Bardet-Biedl syndrome: unmasking secondary hypertension.

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Autosomal dominant sneezing disorder provoked by fullness of stomach

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