Donald R. Love

Grafton Road
Grafton, AUK, New Zealand

Last Updated: 09/26/2026

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Found 90 publications

Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.

Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.

Journal: International journal of molecular sciences

Published: November 05, 2025

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.

Journal: Clinical genetics

Published: August 16, 2025

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Journal: Journal of the Royal Society of New Zealand

Published: August 04, 2025

Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review.

Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review.

Journal: Journal of human genetics

Published: December 11, 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

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

Journal: BMC nephrology

Published: November 28, 2023

Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.

Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 16, 2023

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.

Journal: JIMD reports

Published: November 10, 2022

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

Journal: BMC pediatrics

Published: July 01, 2022

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

Published: November 18, 2021

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Journal: Journal of medical genetics

Published: April 01, 2021

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Journal: Journal of clinical immunology

Published: March 14, 2021

Showing 1-12 of 90

Last Updated: 09/26/2026