Aslıhan Tolun
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 38 publications
Homozygous PTRHD1 Mutation in Intellectual Disability and Atypical Parkinsonism.
Journal: The Yale journal of biology and medicine
Published: April 01, 2026
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
Journal: The Yale journal of biology and medicine
Published: October 02, 2023
A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.
Journal: The Yale journal of biology and medicine
Published: October 02, 2023
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Journal: The Yale journal of biology and medicine
Published: October 02, 2023
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Journal: Brain : a journal of neurology
Published: March 29, 2022
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
Journal: Genetic testing and molecular biomarkers
Published: January 28, 2022
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
Journal: European journal of human genetics : EJHG
Published: August 30, 2021
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Journal: American journal of medical genetics. Part A
Published: June 18, 2021
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
Journal: American journal of medical genetics. Part A
Published: August 12, 2020
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.
Journal: European journal of medical genetics
Published: July 17, 2020
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Journal: The EMBO journal
Published: May 05, 2020
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Journal: Journal of human genetics
Published: March 20, 2020
Last Updated: 09/26/2026