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American Journal of Medical Genetics. Part A
|
October 25, 2023
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant
Esra Kılıç, Can Koşukcu
American Journal of Medical Genetics. Part A
|
March 6, 2025
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation
Mustafa Kılıç, Esra Sayar, Suzan İcil, et al.
The Turkish Journal of Pediatrics
|
August 27, 2021
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, et al.
Pediatric Gastroenterology, Hepatology & Nutrition
|
December 1, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
Merve Güvenoğlu, Pelin Özlem Şimşek-Kiper, Can Koşukcu, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
Erdem Kındış, Pelin Özlem Simsek-Kiper, Can Koşukcu, et al.
European Journal of Medical Genetics
|
March 22, 2017
HERC1 mutations in idiopathic intellectual disability
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, et al.
Clinical Genetics
|
July 19, 2023
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)
Seha Saygılı, Can Koşukcu, Turgut Baştuğ, et al.
The Journal of Rheumatology
|
July 17, 2018
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus
Ezgi Deniz Batu, Can Koşukcu, Ekim Taşkıran, et al.
American Journal of Medical Genetics. Part A
|
October 9, 2017
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome
Ekim Z Taskiran, Beren Karaosmanoglu, Can Koşukcu, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
August 19, 2021
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
Naz Güleray, Can Koşukcu, Sümeyra Oğuz, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
October 25, 2023
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant
Esra Kılıç, Can Koşukcu
American Journal of Medical Genetics. Part A
|
March 6, 2025
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation
Mustafa Kılıç, Esra Sayar, Suzan İcil, et al.
The Turkish Journal of Pediatrics
|
August 27, 2021
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, et al.
Pediatric Gastroenterology, Hepatology & Nutrition
|
December 1, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
Merve Güvenoğlu, Pelin Özlem Şimşek-Kiper, Can Koşukcu, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
Erdem Kındış, Pelin Özlem Simsek-Kiper, Can Koşukcu, et al.
European Journal of Medical Genetics
|
March 22, 2017
HERC1 mutations in idiopathic intellectual disability
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, et al.
Clinical Genetics
|
July 19, 2023
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT)
Seha Saygılı, Can Koşukcu, Turgut Baştuğ, et al.
The Journal of Rheumatology
|
July 17, 2018
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus
Ezgi Deniz Batu, Can Koşukcu, Ekim Taşkıran, et al.
American Journal of Medical Genetics. Part A
|
October 9, 2017
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome
Ekim Z Taskiran, Beren Karaosmanoglu, Can Koşukcu, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
August 19, 2021
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
Naz Güleray, Can Koşukcu, Sümeyra Oğuz, et al.
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