False negative results in patients with fra(X) (q) mental retardation taking oral vitamin supplements

Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.

American journal of medical genetics. Part A·2024

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical genetics·2017

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Clinical genetics·2015

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

The British journal of dermatology·2010

Improved sensitivity for solid-support invasive cleavage reactions with flow cytometry analysis.

BioTechniques·2003

A DNA computing readout operation based on structure-specific cleavage.

Nature biotechnology·2001

Survodutide Once Weekly in Adults with Obesity and Type 2 Diabetes.

The New England journal of medicine·2026

Retatrutide, a Triple Hormone Receptor Agonist, for Treatment of Obesity.

The New England journal of medicine·2026

Chyme reinfusion via percutaneous endoscopic colostomy in type 1 short bowel syndrome with a defunctionalized but intact colon: short-term nutritional outcomes and parenteral support weaning.

Frontiers in nutrition·2026

Beyond reduced intake: tumor metabolism and immune dysregulation drive cancer-related malnutrition in head and neck squamous cell carcinoma (HNSCC).

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer·2026

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JIMD reports·2026

Cost-Effectiveness of Dapagliflozin in the Treatment of Patients With Chronic Kidney Disease in Denmark.

Kidney medicine·2026

Beyond Food Selectivity: Feeding Problems, Nutritional Status, and Parental Quality of Life in Autism Spectrum Disorder.

Journal of autism and developmental disorders·2026

Refractory diabetic ketoacidosis in Rabson-Mendenhall syndrome due to a novel mutation: contrasting outcomes in a sibling - case series.

Journal of pediatric endocrinology & metabolism : JPEM·2026

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False negative results in patients with fra(X) (q) mental retardation taking oral vitamin supplements

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Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

Improved sensitivity for solid-support invasive cleavage reactions with flow cytometry analysis.

A DNA computing readout operation based on structure-specific cleavage.

Survodutide Once Weekly in Adults with Obesity and Type 2 Diabetes.

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