Search research articles
Contact Us
Filters
Showing results (161-170 of 244) with videos related to
Page
of 25
Sort By:
Journal of Clinical Research in Pediatric Endocrinology
|
February 3, 2016
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
Bahar Özcabı, Feride Tahmiscioğlu Bucak, Serdar Ceylaner, et al.
Case Reports in Neurological Medicine
|
June 15, 2016
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, et al.
Molecular Syndromology
|
December 5, 2024
Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies
Neslihan Doğulu, Engin Köse, Serdar Ceylaner, et al.
Clinical Neurology and Neurosurgery
|
August 2, 2022
Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7
İlknur Sürücü Kara, Engin Köse, Neslihan Doğulu, et al.
Human Mutation
|
August 9, 2005
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
Jürgen Kohlhase, David Chitayat, Dieter Kotzot, et al.
Pediatric Blood & Cancer
|
November 20, 2013
Chronic lymphocytic leukemia in a child: a challenging diagnosis in pediatric oncology practice
Hacı Ahmet Demir, Turan Bayhan, Ayşegül Üner, et al.
Digestive Diseases and Sciences
|
October 27, 2016
Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene
Funda Yavanoglu Atay, Turan Derme, Nurdan Uras, et al.
Neuromuscular Disorders : NMD
|
November 30, 2016
Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, et al.
Journal of Child Neurology
|
May 20, 2014
Two novel missense mutations in nonketotic hyperglycinemia
Berna Seker Yilmaz, Deniz Kor, Serdar Ceylaner, et al.
Pediatric Rheumatology Online Journal
|
January 24, 2023
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report
İlknur Bağrul, Serdar Ceylaner, Yasemin Tasci Yildiz, et al.
Page
of 25
Search research articles
Search
Showing results (161-170 of 244) with videos related to
Sort By:
Page
of 25
Journal of Clinical Research in Pediatric Endocrinology
|
February 3, 2016
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
Bahar Özcabı, Feride Tahmiscioğlu Bucak, Serdar Ceylaner, et al.
Case Reports in Neurological Medicine
|
June 15, 2016
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, et al.
Molecular Syndromology
|
December 5, 2024
Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies
Neslihan Doğulu, Engin Köse, Serdar Ceylaner, et al.
Clinical Neurology and Neurosurgery
|
August 2, 2022
Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7
İlknur Sürücü Kara, Engin Köse, Neslihan Doğulu, et al.
Human Mutation
|
August 9, 2005
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
Jürgen Kohlhase, David Chitayat, Dieter Kotzot, et al.
Pediatric Blood & Cancer
|
November 20, 2013
Chronic lymphocytic leukemia in a child: a challenging diagnosis in pediatric oncology practice
Hacı Ahmet Demir, Turan Bayhan, Ayşegül Üner, et al.
Digestive Diseases and Sciences
|
October 27, 2016
Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene
Funda Yavanoglu Atay, Turan Derme, Nurdan Uras, et al.
Neuromuscular Disorders : NMD
|
November 30, 2016
Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, et al.
Journal of Child Neurology
|
May 20, 2014
Two novel missense mutations in nonketotic hyperglycinemia
Berna Seker Yilmaz, Deniz Kor, Serdar Ceylaner, et al.
Pediatric Rheumatology Online Journal
|
January 24, 2023
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report
İlknur Bağrul, Serdar Ceylaner, Yasemin Tasci Yildiz, et al.
Page
of 25