Yasemin Alanay
Acibadem, Turkey
Last Updated: 09/26/2026
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Found 122 publications
Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report.
Journal: Journal of child neurology
Published: March 16, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum.
Journal: European journal of pediatrics
Published: January 19, 2026
Osteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant.
Journal: Journal of clinical research in pediatric endocrinology
Published: December 29, 2025
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
When Neuromotor Delay Meets Thyroid Dysfunction: A Case for Considering Allan-Herndon-Dudley Syndrome.
Journal: Klinische Padiatrie
Published: November 21, 2025
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.
Journal: Genome medicine
Published: November 04, 2025
New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2025
Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome.
Journal: BMC medical education
Published: August 07, 2025
Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.
Journal: International journal of molecular sciences
Published: August 05, 2025
Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 -Related Rothmund-Thomson Syndrome.
Journal: American journal of medical genetics. Part A
Published: March 24, 2025
Last Updated: 09/26/2026