Williams syndrome--does early diagnosis matter?

Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).

Orphanet journal of rare diseases·2022

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Biological psychiatry·2019

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.

Proceedings of the National Academy of Sciences of the United States of America·2019

Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2019

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

American journal of medical genetics. Part A·2018

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

American journal of hematology·2017

The Relationship Between Life Satisfaction, Psychological Resilience, and Burnout in Mothers of Disabled Children.

Clinical pediatrics·2026

Exploring Communities: Use of Windshield Surveys in Pediatric Residency Education.

Clinical pediatrics·2026

Utility of E-Nose in Paediatric Respiratory Diseases Using Machine Learning Approach: A Pilot Study.

Clinical pediatrics·2026

Effect of Preferred Language on Pediatric Rapid Response Activation and Subsequent Intensive Care Utilization.

Clinical pediatrics·2026

Documented Caregiver Report of Wheezing at Home is Associated With Decreased Length of Pediatric Asthma Hospitalizations.

Clinical pediatrics·2026

Virtual Reality Education for Hospitalized Pediatric Patients Improves Intrinsic Motivation: A Prospective, Randomized Crossover Study.

Clinical pediatrics·2026

<i>Clostridioides difficile</i> Infection-Associated Functional Bowel Disorder: A Three-Year Cohort Study.

Open forum infectious diseases·2026

Dysphagia Aortica Secondary to a Giant Aortic Aneurysm: An Old Sign Revisited.

Cureus·2026

Liver Iron Content in Individuals With B-Thalassemia Trait and Hyperferritinemia: Role of Metabolic Alterations, <i>HFE</i> Genotypes, and Cirrhosis.

Mediterranean journal of hematology and infectious diseases·2026

Dietary Inflammatory Index and risk of nonalcoholic fatty liver disease: nonlinear associations, metabolic mediation, and external validation.

Frontiers in nutrition·2026

Association between vitamin D deficiency and longitudinal risk of head and neck cancer: a multi-institutional retrospective study.

Frontiers in nutrition·2026

Association between triglyceride-to-high-density lipoprotein cholesterol ratio and albuminuria in patients with type 2 diabetes: a cross-sectional study.

Frontiers in nutrition·2026

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Williams syndrome--does early diagnosis matter?

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Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.

Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

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Virtual Reality Education for Hospitalized Pediatric Patients Improves Intrinsic Motivation: A Prospective, Randomized Crossover Study.

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Williams syndrome--does early diagnosis matter?

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