Tuula K. Rinne

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 48 publications

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis.

Journal: iScience

Published: August 11, 2025

Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders.

Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders.

Journal: International journal of molecular sciences

Published: May 27, 2025

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype.

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype.

Journal: American journal of medical genetics. Part A

Published: April 18, 2025

Severe Nerve Enlargement in SOS2-Related Noonan Syndrome.

Severe Nerve Enlargement in SOS2-Related Noonan Syndrome.

Journal: American journal of medical genetics. Part A

Published: March 10, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 25, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Journal: American journal of medical genetics. Part A

Published: April 15, 2024

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology

Published: November 16, 2023

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.

Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.

Journal: Frontiers in endocrinology

Published: April 23, 2023

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.

Journal: European journal of pediatrics

Published: March 20, 2023

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Journal: Human genomics

Published: January 17, 2023

Showing 1-12 of 48

Last Updated: 09/26/2026