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Pediatric Blood & Cancer|October 10, 2013
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesisSule Unal, Yasemin Alanay, Mualla Cetin, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|August 19, 2021
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral SpectrumNaz Güleray, Can Koşukcu, Sümeyra Oğuz, et al.
Journal of Human Genetics|December 8, 2020
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experiencePelin Ozlem Simsek-Kiper, Gizem Urel-Demir, Ekim Z Taskiran, et al.
Orphanet Journal of Rare Diseases|April 29, 2014
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic featuresAhmet Arman, Abdullah Bereket, Ajda Coker, et al.
American Journal of Medical Genetics. Part A|July 22, 2025
Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson SyndromeBeril Ay, Ozlem Akgun-Dogan, Fulya Taylan, et al.
American Journal of Human Genetics|December 11, 2008
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndromeEkkehart Lausch, Pia Hermanns, Henner F Farin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 9, 2017
A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I ProcollagenIvan Duran, Jorge H Martin, Mary Ann Weis, et al.
American Journal of Medical Genetics. Part A|April 13, 2023
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature reviewGokcen Karamik, Beyhan Tuysuz, Esra Isik, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorderRaffaele Renella, Elke Schaefer, Martine LeMerrer, et al.
Frontiers in Public Health|January 23, 2023
Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey resultsOzden Hatirnaz Ng, Ilayda Sahin, Yucel Erbilgin, et al.
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