Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

Neural Stimulation Hardware for the Selective Intrafascicular Modulation of the Vagus Nerve.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society·2023

Decoding bladder state from pudendal intraneural signals in pigs.

APL bioengineering·2023

Deletion of the SHOX gene in patients with short stature of unknown cause.

American journal of medical genetics. Part A·2003

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

Clinical genetics·2003

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Molecular and cellular probes·2002

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome.

Pediatric cardiology·2002

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

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Clinical outcomes of "massive" acetaminophen overdose treated with standard vs. augmented dose acetylcysteine.

Clinical toxicology (Philadelphia, Pa.)·2026

Stability-Indicating HPLC Method for Simultaneous Determination of Sulfadimethoxine and Ormetoprim in an Oral Solution.

ACS omega·2026

Development of HPLC-PDA method for steviol glycosides analysis in food matrices.

Food science and biotechnology·2026

Evaporation-free Supercritical Fluid Chromatography-Internal Standard Correction-Solvent Suppression-Quantitative Nuclear Magnetic Resonance for Chiral Separation and Quantification of Quinine.

Journal of separation science·2026

Research on infrared spectroscopy analysis method of cotton-polyester blended fabrics based on blind source separation and quantum chemical calculation.

Analytica chimica acta·2026

Dual-functional SiO2@Cr2O3-C18 sorbent combining Lewis acid-base and hydrophobic interactions for the selective SPE-LC-MS/MS determination of perfluoroalkyl carboxylates in protein-rich biological matrices.

Analytica chimica acta·2026

Related Experiment Videos

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

Related Concept Videos

Neural Stimulation Hardware for the Selective Intrafascicular Modulation of the Vagus Nerve.

Decoding bladder state from pudendal intraneural signals in pigs.

Deletion of the SHOX gene in patients with short stature of unknown cause.

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome.

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.

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical outcomes of "massive" acetaminophen overdose treated with standard vs. augmented dose acetylcysteine.

Stability-Indicating HPLC Method for Simultaneous Determination of Sulfadimethoxine and Ormetoprim in an Oral Solution.

Development of HPLC-PDA method for steviol glycosides analysis in food matrices.

Evaporation-free Supercritical Fluid Chromatography-Internal Standard Correction-Solvent Suppression-Quantitative Nuclear Magnetic Resonance for Chiral Separation and Quantification of Quinine.

Research on infrared spectroscopy analysis method of cotton-polyester blended fabrics based on blind source separation and quantum chemical calculation.

Dual-functional SiO2@Cr2O3-C18 sorbent combining Lewis acid-base and hydrophobic interactions for the selective SPE-LC-MS/MS determination of perfluoroalkyl carboxylates in protein-rich biological matrices.

Related Experiment Videos

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

Related Concept Videos

Related Articles