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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2025
Correspondence on "Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder" by Rawlins et al
Göknur Haliloğlu, Erhan Özel, Gizem Ürel Demir, et al.
European Journal of Medical Genetics
|
May 9, 2019
Ophthalmo-acromelic syndrome in an infant
Gizem Ürel-Demir, Ekim Zihni Taşkıran, Özlem Akgün-Doğan, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2023
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
Akçahan Akalın, Pelin Özlem Şimşek-Kiper, Ekim Z Taşkıran, et al.
Molecular Syndromology
|
August 9, 2024
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants
Gizem Ürel-Demir, Burak Başer, Rahşan Göçmen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 28, 2021
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
Gizem Ürel-Demir, Pelin Özlem Şimşek-Kiper, İbrahim Öncel, et al.
Pediatric Dermatology
|
January 23, 2020
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema
Basak Yalici-Armagan, Serkan Kabacam, Zihni Ekim Taskiran, et al.
American Journal of Medical Genetics. Part A
|
December 2, 2024
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families
Tuğba Daşar, Gizem Ürel Demir, Gözde İmren, et al.
The Turkish Journal of Pediatrics
|
April 8, 2020
Peters Plus syndrome: a recognizable clinical entity
Gizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan, et al.
Neuropediatrics
|
July 15, 2020
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
Pelin Ozlem Simsek-Kiper, Sumeyra Oguz, Fatma Bilge Ergen, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Esra Kilic, Gökhan Yigit, Gülen Eda Utine, et al.
Page
of 16
Search research articles
Search
Showing results (51-60 of 155) with videos related to
Sort By:
Page
of 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2025
Correspondence on "Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder" by Rawlins et al
Göknur Haliloğlu, Erhan Özel, Gizem Ürel Demir, et al.
European Journal of Medical Genetics
|
May 9, 2019
Ophthalmo-acromelic syndrome in an infant
Gizem Ürel-Demir, Ekim Zihni Taşkıran, Özlem Akgün-Doğan, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2023
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
Akçahan Akalın, Pelin Özlem Şimşek-Kiper, Ekim Z Taşkıran, et al.
Molecular Syndromology
|
August 9, 2024
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants
Gizem Ürel-Demir, Burak Başer, Rahşan Göçmen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 28, 2021
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
Gizem Ürel-Demir, Pelin Özlem Şimşek-Kiper, İbrahim Öncel, et al.
Pediatric Dermatology
|
January 23, 2020
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema
Basak Yalici-Armagan, Serkan Kabacam, Zihni Ekim Taskiran, et al.
American Journal of Medical Genetics. Part A
|
December 2, 2024
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families
Tuğba Daşar, Gizem Ürel Demir, Gözde İmren, et al.
The Turkish Journal of Pediatrics
|
April 8, 2020
Peters Plus syndrome: a recognizable clinical entity
Gizem Ürel Demir, Naz Güleray Lafcı, Özlem Akgün Doğan, et al.
Neuropediatrics
|
July 15, 2020
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
Pelin Ozlem Simsek-Kiper, Sumeyra Oguz, Fatma Bilge Ergen, et al.
American Journal of Medical Genetics. Part A
|
March 5, 2015
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I
Esra Kilic, Gökhan Yigit, Gülen Eda Utine, et al.
Page
of 16