The "Michelin tire baby" syndrome--an autosomal dominant trait

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Clinical genetics·2015

Down-regulation of ABCC11 protein (MRP8) in human breast cancer.

Experimental oncology·2011

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

Journal of dental research·2006

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

Journal of clinical pathology·2006

Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome.

American journal of medical genetics. Part A·2006

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions.

Journal of medical genetics·2005

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

p62/SQSTM1-KEAP1 complex prevents clearance of ubiquitinated Z alpha-1 antitrypsin and aggravates liver proteotoxicity.

The Journal of biological chemistry·2026

Family history of cognitive impairment as a diagnostic clue in Fragile X-associated tremor/ataxia syndrome.

BMJ case reports·2026

Distinct factors drive the progression of tau pathology in Alzheimer's disease.

Fundamental research·2026

Effect of the Combination of Ultra-High-Molecular-Weight Polyethylene, Denim Fabric, and Aluminum on the Functional Properties in Composite Crash Boxes.

Polymers·2026

Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration.

Acta neuropathologica·2026

Effects of Surface Texture and Color on the Visuo-Tactile Perception of Polyurethane Synthetic Leather for Automotive Seats.

Journal of eye movement research·2026

Related Experiment Videos

The "Michelin tire baby" syndrome--an autosomal dominant trait

Related Concept Videos

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Down-regulation of ABCC11 protein (MRP8) in human breast cancer.

A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome.

Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

p62/SQSTM1-KEAP1 complex prevents clearance of ubiquitinated Z alpha-1 antitrypsin and aggravates liver proteotoxicity.

Family history of cognitive impairment as a diagnostic clue in Fragile X-associated tremor/ataxia syndrome.

Distinct factors drive the progression of tau pathology in Alzheimer's disease.

Effect of the Combination of Ultra-High-Molecular-Weight Polyethylene, Denim Fabric, and Aluminum on the Functional Properties in Composite Crash Boxes.

Mutation-specific neuropathologic signatures in MAPT-associated frontotemporal lobar degeneration.

Effects of Surface Texture and Color on the Visuo-Tactile Perception of Polyurethane Synthetic Leather for Automotive Seats.

Related Experiment Videos

The "Michelin tire baby" syndrome--an autosomal dominant trait

Related Concept Videos

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