[Cerebral gigantism Sotos' syndrome]

Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load.

Journal of psychiatric research·2024

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

Clinical genetics·2015

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

Human reproduction (Oxford, England)·2012

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Dermatology (Basel, Switzerland)·2010

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Journal of medical genetics·2009

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.

The Canadian journal of cardiology·2009

[Suture lateralisation of the vocal fold in a patient with bilateral vocal cord paralysis].

Ugeskrift for laeger·2026

[Nontoxigenic Vibrio cholerae O1 bacteraemia and cholangitis in a returning traveller from Sri Lanka].

Ugeskrift for laeger·2026

[Transcranial magnetic stimulation in non-psychiatric disorders].

Ugeskrift for laeger·2026

[Coronary artery calcium and cardiovascular prevention].

Ugeskrift for laeger·2026

[Advanced therapy medicinal products].

Ugeskrift for laeger·2026

[Giant panniculectomy].

Ugeskrift for laeger·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

[Cerebral gigantism Sotos' syndrome]

Related Concept Videos

Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load.

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.

[Suture lateralisation of the vocal fold in a patient with bilateral vocal cord paralysis].

[Nontoxigenic Vibrio cholerae O1 bacteraemia and cholangitis in a returning traveller from Sri Lanka].

[Transcranial magnetic stimulation in non-psychiatric disorders].

[Coronary artery calcium and cardiovascular prevention].

[Advanced therapy medicinal products].

[Giant panniculectomy].

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.

Related Experiment Videos

[Cerebral gigantism Sotos' syndrome]

Related Concept Videos

Related Articles