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Publications by C. Yildirim

Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

Clinical Genetics

English

Multiple-Valued PLA Minimization by Concurrent Multiple and Mixed Simulated Annealing

English

Related publications

Expanding the Phenotypic Spectrum in RDH12-associated Retinal Disease

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Congenital Myasthenic Syndromes

Neurologic Clinics

English

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

English

Congenital Myasthenic Syndromes

English

Novel Variants and Phenotypes Widen the Phenotypic Spectrum of GABRG2-related Disorders

Seizure : the journal of the British Epilepsy Association

English

Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant

Molecular Genetics and Metabolism

Molecular Biology

English

Delineating the GRIN1 Phenotypic Spectrum

English

Congenital Disorder of Glycosylation Type Ia (CDG-Ia): Phenotypic Spectrum of the R141h/F119l Genotype

Archives of Disease in Childhood

English

“Breath Holding Spells” in a Child With SCN8A-related Epilepsy: Expanding the Clinical Spectrum

Seizure : the journal of the British Epilepsy Association

English