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International Journal of Molecular Sciences
|
February 13, 2025
Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia
Gozde Imren, Beren Karaosmanoglu, Bihter Muratoglu, et al.
Journal of Child Neurology
|
April 19, 2021
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, et al.
European Journal of Pediatrics
|
June 15, 2024
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Merve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, et al.
Neuropediatrics
|
February 16, 2024
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, et al.
European Journal of Pediatrics
|
July 18, 2024
Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Merve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2021
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings
Tutku Soyer, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
February 19, 2025
ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report
Gozel Jumayeva, Merve Soğukpınar, Beren Karaosmanoğlu, et al.
The Turkish Journal of Pediatrics
|
May 30, 2024
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
Tuğba Daşar, Hasibe Nesligül Gönen, Kemal Kösemehmetoğlu, et al.
The Turkish Journal of Pediatrics
|
July 24, 2018
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome
Arda Çetinkaya, Ekim Taşkıran, Tutku Soyer, et al.
Molecular Cytogenetics
|
July 2, 2009
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
Dilek Aktas, Anja Weise, Eda Utine, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 155) with videos related to
Sort By:
Page
of 16
International Journal of Molecular Sciences
|
February 13, 2025
Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia
Gozde Imren, Beren Karaosmanoglu, Bihter Muratoglu, et al.
Journal of Child Neurology
|
April 19, 2021
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, et al.
European Journal of Pediatrics
|
June 15, 2024
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Merve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, et al.
Neuropediatrics
|
February 16, 2024
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, et al.
European Journal of Pediatrics
|
July 18, 2024
Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
Merve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2021
Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings
Tutku Soyer, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
February 19, 2025
ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report
Gozel Jumayeva, Merve Soğukpınar, Beren Karaosmanoğlu, et al.
The Turkish Journal of Pediatrics
|
May 30, 2024
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
Tuğba Daşar, Hasibe Nesligül Gönen, Kemal Kösemehmetoğlu, et al.
The Turkish Journal of Pediatrics
|
July 24, 2018
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome
Arda Çetinkaya, Ekim Taşkıran, Tutku Soyer, et al.
Molecular Cytogenetics
|
July 2, 2009
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
Dilek Aktas, Anja Weise, Eda Utine, et al.
Page
of 16