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American Journal of Medical Genetics. Part A
|
April 22, 2024
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkıran, et al.
European Journal of Pediatrics
|
April 25, 2012
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
Esra Kılıç, Eda Utine, Sule Unal, et al.
The Turkish Journal of Pediatrics
|
May 22, 2026
In memory of Prof. Enver Hasanoğlu: Honoring a legacy
Ali Düzova, Sinem Akgül, Eda Utine, et al.
European Journal of Medical Genetics
|
June 2, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
Suleyman Nahit Sendur, Sumeyra Oguz, Gulen Eda Utine, et al.
The Turkish Journal of Pediatrics
|
April 11, 2019
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome
Burçak Bilgin, Serkan Kabaçam, Ekim Taşkıran, et al.
Molecular Syndromology
|
October 13, 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature
Akçahan Akalın, Ekim Z Taskiran, Pelin Özlem Şimşek-Kiper, et al.
The Turkish Journal of Pediatrics
|
November 24, 2017
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome
Hayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, et al.
Molecular Syndromology
|
February 15, 2024
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome
Cansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, et al.
The Turkish Journal of Pediatrics
|
March 14, 2022
A very rare case of a newborn with tetrasomy 9p and literature review
Merve Süleyman, Sümeyra Oğuz, Gözdem Kaykı, et al.
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Search research articles
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Showing results (61-70 of 155) with videos related to
Sort By:
Page
of 16
American Journal of Medical Genetics. Part A
|
April 22, 2024
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia
Pelin Özlem Şimşek-Kiper, Beren Karaosmanoğlu, Ekim Zihni Taşkıran, et al.
European Journal of Pediatrics
|
April 25, 2012
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
Esra Kılıç, Eda Utine, Sule Unal, et al.
The Turkish Journal of Pediatrics
|
May 22, 2026
In memory of Prof. Enver Hasanoğlu: Honoring a legacy
Ali Düzova, Sinem Akgül, Eda Utine, et al.
European Journal of Medical Genetics
|
June 2, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
Suleyman Nahit Sendur, Sumeyra Oguz, Gulen Eda Utine, et al.
The Turkish Journal of Pediatrics
|
April 11, 2019
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome
Burçak Bilgin, Serkan Kabaçam, Ekim Taşkıran, et al.
Molecular Syndromology
|
October 13, 2025
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2021
Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature
Akçahan Akalın, Ekim Z Taskiran, Pelin Özlem Şimşek-Kiper, et al.
The Turkish Journal of Pediatrics
|
November 24, 2017
Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome
Hayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, et al.
Molecular Syndromology
|
February 15, 2024
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome
Cansu Kethuda Ensert Cihan, Halil Tuna Akar, Yılmaz Yıldız, et al.
The Turkish Journal of Pediatrics
|
March 14, 2022
A very rare case of a newborn with tetrasomy 9p and literature review
Merve Süleyman, Sümeyra Oğuz, Gözdem Kaykı, et al.
Page
of 16