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European Journal of Medical Genetics
|
March 4, 2021
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study
Ummusen Kaya Akca, Pelin Ozlem Simsek Kiper, Gizem Urel Demir, et al.
Molecular Biology Reports
|
September 13, 2024
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion
Beren Karaosmanoglu, Gozde Imren, M Samil Ozisin, 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 experience
Pelin Ozlem Simsek-Kiper, Gizem Urel-Demir, Ekim Z Taskiran, et al.
American Journal of Medical Genetics. Part A
|
June 11, 2024
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2
Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2026
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial Disease
Nazli Busra Acikgoz, Gizem Urel Demir, Yilmaz Yildiz, et al.
Clinical Genetics
|
September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
Insa Buers, Ivana Persico, Lara Schöning, et al.
American Journal of Medical Genetics. Part A
|
April 14, 2019
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome
Pelin Ozlem Simsek-Kiper, Ekim Taskiran, Can Kosukcu, et al.
European Journal of Pediatrics
|
May 2, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum
Nazli Busra Acikgoz, Burcu Senkalfa, Berna Celik Ertas, et al.
Journal of Human Genetics
|
January 6, 2021
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
Jing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, et al.
Human Mutation
|
September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
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Search research articles
Search
Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
European Journal of Medical Genetics
|
March 4, 2021
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study
Ummusen Kaya Akca, Pelin Ozlem Simsek Kiper, Gizem Urel Demir, et al.
Molecular Biology Reports
|
September 13, 2024
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion
Beren Karaosmanoglu, Gozde Imren, M Samil Ozisin, 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 experience
Pelin Ozlem Simsek-Kiper, Gizem Urel-Demir, Ekim Z Taskiran, et al.
American Journal of Medical Genetics. Part A
|
June 11, 2024
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2
Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar, et al.
American Journal of Medical Genetics. Part A
|
January 9, 2026
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial Disease
Nazli Busra Acikgoz, Gizem Urel Demir, Yilmaz Yildiz, et al.
Clinical Genetics
|
September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
Insa Buers, Ivana Persico, Lara Schöning, et al.
American Journal of Medical Genetics. Part A
|
April 14, 2019
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome
Pelin Ozlem Simsek-Kiper, Ekim Taskiran, Can Kosukcu, et al.
European Journal of Pediatrics
|
May 2, 2026
Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum
Nazli Busra Acikgoz, Burcu Senkalfa, Berna Celik Ertas, et al.
Journal of Human Genetics
|
January 6, 2021
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
Jing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, et al.
Human Mutation
|
September 23, 2022
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, et al.
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