Juan C. Pallais

Juan C. Pallais

Endocrinology

221 Longwood Avenue 2nd Floor Brigham And Women's At 221 Longwood Boston
2nd Floor Brigham And Women's At 221 Longwood
Boston, MA 02115

Last Updated: 09/26/2026

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Found 19 publications

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 29, 2026

First, do NOHARM: towards clinically safe large language models.

First, do NOHARM: towards clinically safe large language models.

Journal: ArXiv

Published: January 14, 2026

Burden of disease in US patients with skeletal versus muscular or pain manifestations of hypophosphatasia: An analysis from the Global HPP Registry.

Burden of disease in US patients with skeletal versus muscular or pain manifestations of hypophosphatasia: An analysis from the Global HPP Registry.

Journal: Bone

Published: December 22, 2025

Use of total calcium in hypoparathyroidism: a pragmatic approach but with limitations.

Use of total calcium in hypoparathyroidism: a pragmatic approach but with limitations.

Journal: European journal of endocrinology

Published: December 10, 2025

Revised European Society of Endocrinology Clinical Practice Guideline: Treatment of Chronic Hypoparathyroidism in Adults.

Revised European Society of Endocrinology Clinical Practice Guideline: Treatment of Chronic Hypoparathyroidism in Adults.

Journal: European journal of endocrinology

Published: October 25, 2025

Neuropsychiatric Sequelae of Thyroid Dysfunction: Evaluation and Management.

Neuropsychiatric Sequelae of Thyroid Dysfunction: Evaluation and Management.

Journal: The primary care companion for CNS disorders

Published: January 10, 2024

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.

High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.

Journal: The Journal of clinical investigation

Published: October 24, 2023

The Game Is Afoot.

The Game Is Afoot.

Journal: The New England journal of medicine

Published: May 28, 2020

The Undiagnosed Diseases Network as a Tool for Graduate Medical Education.

The Undiagnosed Diseases Network as a Tool for Graduate Medical Education.

Journal: The American journal of medicine

Published: June 14, 2019

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Journal: American journal of human genetics

Published: May 28, 2019

Case 18-2018: A 45-Year-Old Woman with Hypertension, Fatigue, and Altered Mental Status.

Case 18-2018: A 45-Year-Old Woman with Hypertension, Fatigue, and Altered Mental Status.

Journal: The New England journal of medicine

Published: June 14, 2018

Serum chloride in heart failure: a salty prognosis.

Serum chloride in heart failure: a salty prognosis.

Journal: European journal of heart failure

Published: March 15, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026