Luis R. Saraiva

Research Branch
Doha, DA, Qatar

Last Updated: 09/26/2026

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Found 51 publications

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures.

Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures.

Journal: Frontiers in pediatrics

Published: February 13, 2026

Genetic Insights into Familial Hypospadias Identifying Rare Variants and Their Potential Role in Urethral Development.

Genetic Insights into Familial Hypospadias Identifying Rare Variants and Their Potential Role in Urethral Development.

Journal: Genes

Published: October 16, 2025

Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.

Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.

Journal: American journal of physiology. Endocrinology and metabolism

Published: October 10, 2025

The Nose Knows: Olfaction as a Metabolic Gatekeeper in Health and Disease.

The Nose Knows: Olfaction as a Metabolic Gatekeeper in Health and Disease.

Journal: Physiology (Bethesda, Md.)

Published: May 23, 2025

Biomarker for renal scarring screening in children with vesicoureteral reflux: a systematic review.

Biomarker for renal scarring screening in children with vesicoureteral reflux: a systematic review.

Journal: Frontiers in pediatrics

Published: May 01, 2025

Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.

Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 24, 2025

Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.

Establishing a Structured Hypospadias Biobank Cohort for Integrated Research: Methodology, Comprehensive Database Integration, and Phenotyping.

Journal: Diagnostics (Basel, Switzerland)

Published: January 07, 2025

Exploring ethnic disparities in hypospadias incidence: A meta-analysis of epidemiological studies.

Exploring ethnic disparities in hypospadias incidence: A meta-analysis of epidemiological studies.

Journal: Journal of pediatric urology

Published: December 17, 2024

Towards a consensus atlas of human and mouse adipose tissue at single-cell resolution.

Towards a consensus atlas of human and mouse adipose tissue at single-cell resolution.

Journal: Nature metabolism

Published: November 01, 2024

Genome-wide association study of the taste and hedonic ratings of the low-calorie sweetener acesulfame potassium.

Genome-wide association study of the taste and hedonic ratings of the low-calorie sweetener acesulfame potassium.

Journal: Scientific reports

Published: October 10, 2024

Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity.

Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity.

Journal: International journal of molecular sciences

Published: September 11, 2024

Predicted mechanistic impacts of human protein missense variants.

Predicted mechanistic impacts of human protein missense variants.

Journal: bioRxiv : the preprint server for biology

Published: June 10, 2024

Showing 1-12 of 51

Last Updated: 09/26/2026