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Journal of Pediatric Genetics
|
May 8, 2019
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative <i>WNT7A</i> Gene Mutation
Hale Önder Yılmaz, Duran Topak, Orkun Yılmaz, et al.
The Turkish Journal of Pediatrics
|
April 8, 2020
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings
Seda Çakmaklı, Çiğdem Kaplan, Mehmet Uzunoğlu, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
August 7, 2019
Vanishing white matter disease with different faces
Gülay Güngör, Olcay Güngör, Seda Çakmaklı, et al.
Cytogenetic and Genome Research
|
March 9, 2018
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Journal of Pediatric Genetics
|
May 8, 2019
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative <i>WNT7A</i> Gene Mutation
Hale Önder Yılmaz, Duran Topak, Orkun Yılmaz, et al.
The Turkish Journal of Pediatrics
|
April 8, 2020
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings
Seda Çakmaklı, Çiğdem Kaplan, Mehmet Uzunoğlu, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
August 7, 2019
Vanishing white matter disease with different faces
Gülay Güngör, Olcay Güngör, Seda Çakmaklı, et al.
Cytogenetic and Genome Research
|
March 9, 2018
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, et al.
Page
of 1