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Publications by Berk Özyılmaz

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-Onset Diabetes of the Young

The Journal of Pediatric Research

English

Related publications

46, XY Pure Gonadal Dysgenesis Diagnosed With Gonadoblastoma by Prophylactic Laparoscopic Gonadal Resection: A Case Report

Nihon Gekakei Rengo Gakkaishi (Journal of Japanese College of Surgeons)

English

Rare Case of Complete Gonadal Dysgenesis 46 XY, Swyer Syndrome

International Journal of Research in Medical Sciences

English

Dysgerminoma in a Case of 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome): A Case Report

Diagnostic Pathology

Forensic Medicine

English

Familial Pure Gonadal Dysgenesis With 46, XY Karyotype in Three Siblings and Gonadoblastoma in the Youngest Sibling

International Journal of Human Genetics

English

Linkage Analysis of a Kindred With Inherited 46,XY Partial Gonadal Dysgenesis

Journal of Clinical Endocrinology and Metabolism

Clinical Biochemistry

English

Is Interstitial 8p23 Microdeletion Responsible of 46,XY Gonadal Dysgenesis? One Case Report From Birth to Puberty

Molecular genetics & genomic medicine

Molecular Biology

English

Complete XY Gonadal Dysgenesis and Aspects of the SRY Genotype and Gonadal Tumor Formation

Journal of Human Genetics

English

Chromosomes in a Case of Pure Gonadal Dysgenesis

English

Absent Visualization of a Hypoplastic Uterus in a 16 Year Old With Complete 46 XY Gonadal Dysgenesis (Swyer Syndrome)

Endocrinology & Metabolic Syndrome

English