Prader-Willi syndrome and Sotos syndrome

Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry.

Journal of neurology·2010

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

Neuropediatrics·2010

Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.

Human reproduction (Oxford, England)·2005

Familial aggregation of strong hemispheric language lateralization.

Neurology·2004

PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations.

Molecular biology and evolution·2004

Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.

Clinical genetics·2001

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

ShortSCOPE: An Optical Short-Period Seismic Sensor for Planetary Exploration.

Space science reviews·2026

BroadSCOPE: An Optical Broadband Seismic Sensor for Planetary Exploration.

Space science reviews·2026

Performance Study of Compact Semiconductor Neutron Spectrometer HardPix for Lunar Water Mapping.

Sensors (Basel, Switzerland)·2026

Potential survivable niches for microbial life on the lunar south pole.

Science advances·2026

Performance Evaluation, Optical Optimization and Earth-Based Validation of Star Sensors for Ground Detection in Martian Dust Environments.

Sensors (Basel, Switzerland)·2026

Spectral-Kinetic Synergy in Au-Network Engineered FeTiO3: A Multi-Field Coupling Strategy for Lunar In Situ Resource Utilization.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Related Experiment Videos

Prader-Willi syndrome and Sotos syndrome

Related Concept Videos

Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry.

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome.

Familial aggregation of strong hemispheric language lateralization.

PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations.

Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

ShortSCOPE: An Optical Short-Period Seismic Sensor for Planetary Exploration.

BroadSCOPE: An Optical Broadband Seismic Sensor for Planetary Exploration.

Performance Study of Compact Semiconductor Neutron Spectrometer HardPix for Lunar Water Mapping.

Potential survivable niches for microbial life on the lunar south pole.

Performance Evaluation, Optical Optimization and Earth-Based Validation of Star Sensors for Ground Detection in Martian Dust Environments.

Spectral-Kinetic Synergy in Au-Network Engineered FeTiO3: A Multi-Field Coupling Strategy for Lunar In Situ Resource Utilization.

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Prader-Willi syndrome and Sotos syndrome

Related Concept Videos

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