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Showing results (11-20 of 23) with videos related to

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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.
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.
Neuromuscular Disorders : NMD|July 30, 2017
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyGulcin Akinci, Haluk Topaloglu, Tevfik Demir, et al.
American Journal of Medical Genetics. Part A|May 14, 2021
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from TurkeyEzgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, et al.
European Journal of Pediatrics|July 31, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, et al.
Bone|January 11, 2020
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangismNadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From TurkeyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
Nature Communications|August 8, 2018
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Céline Huber, Sandrine Chantepie, et al.
Clinical Endocrinology|May 4, 2018
Renal complications of lipodystrophy: A closer look at the natural history of kidney diseaseBaris Akinci, Sadiye Mehtat Unlu, Ali Celik, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

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Pageof 3
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.
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.
Neuromuscular Disorders : NMD|July 30, 2017
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyGulcin Akinci, Haluk Topaloglu, Tevfik Demir, et al.
American Journal of Medical Genetics. Part A|May 14, 2021
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from TurkeyEzgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, et al.
European Journal of Pediatrics|July 31, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, et al.
Bone|January 11, 2020
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangismNadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From TurkeyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
Nature Communications|August 8, 2018
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Céline Huber, Sandrine Chantepie, et al.
Clinical Endocrinology|May 4, 2018
Renal complications of lipodystrophy: A closer look at the natural history of kidney diseaseBaris Akinci, Sadiye Mehtat Unlu, Ali Celik, et al.
Pageof 3