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Molecular Syndromology
|
October 30, 2025
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
Akçahan Akalın, Nagihan Koç, Cansu Özşin-Özler, 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.
The Turkish Journal of Pediatrics
|
April 11, 2019
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center
Gözdem Kaykı, Şafak Güçer, Zuhal Akçören, et al.
Neuromuscular Disorders : NMD
|
December 30, 2025
Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation
Hatice Bektaş, Nagihan Şener, Neslihan Bilgin, et al.
European Journal of Medical Genetics
|
April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
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.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 11, 2014
Etiological yield of SNP microarrays in idiopathic intellectual disability
G Eda Utine, Göknur Haliloğlu, Bilge Volkan-Salancı, 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.
The Turkish Journal of Pediatrics
|
October 13, 2009
Pediatric pleural effusions: etiological evaluation in 492 patients over 29 years
G Eda Utine, Uğur Ozçelik, Nural Kiper, 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.
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of 16
Search research articles
Search
Showing results (111-120 of 155) with videos related to
Sort By:
Page
of 16
Molecular Syndromology
|
October 30, 2025
A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
Akçahan Akalın, Nagihan Koç, Cansu Özşin-Özler, 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.
The Turkish Journal of Pediatrics
|
April 11, 2019
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center
Gözdem Kaykı, Şafak Güçer, Zuhal Akçören, et al.
Neuromuscular Disorders : NMD
|
December 30, 2025
Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation
Hatice Bektaş, Nagihan Şener, Neslihan Bilgin, et al.
European Journal of Medical Genetics
|
April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
Pelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
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.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 11, 2014
Etiological yield of SNP microarrays in idiopathic intellectual disability
G Eda Utine, Göknur Haliloğlu, Bilge Volkan-Salancı, 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.
The Turkish Journal of Pediatrics
|
October 13, 2009
Pediatric pleural effusions: etiological evaluation in 492 patients over 29 years
G Eda Utine, Uğur Ozçelik, Nural Kiper, 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.
Page
of 16