E-LIB Suche - Ergebnisse für: Balci, Mehmet Cihan

1

Clinical, biochemical, and molecular insights into Cerebrot..:

Zubarioglu, Tanyel ; Kıykım, Ertuğrul ; Köse, Engin...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108493 , 2024

Link: https://doi.org/10.1016/..

2

A different perspective into clinical symptoms in CPT I def..:

Balci, Mehmet Cihan ; Karaca, Meryem ; Selamioglu, Arzu...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101032 , 2024

Link: https://doi.org/10.1016/..

3

Triosephosphate Isomerase Deficiency: E105D Mutation in Unr..:

Selamioğlu, Arzu ; Karaca, Meryem ; Balcı, Mehmet Cihan...
Molecular Syndromology. 14 (2023) 3 - p. 231-238 , 2023

Link: https://doi.org/10.1159/..

4

Concurrent Cobalamin C and Plasminogen Deficiencies in a Pa..:

Dirim, Ahmet Burak ; Safak, Seda ; Balci, Mehmet Cihan...
Nephron. 148 (2023) 1 - p. 54-62 , 2023

Link: https://doi.org/10.1159/..

5

Reanalysis of exome sequencing data reveals a treatable neu..:

Susgun, Seda ; Kesim, Yesim ; Khalilov, Dovlat...
Neurological Sciences. 44 (2023) 7 - p. 2527-2540 , 2023

Link: https://doi.org/10.1007/..

6

Novel GALT variations and genetic spectrum in Turkish popul..:

Kalay, Irem ; Gulec, Cagri ; Balcı, Mehmet Cihan...
Annals of Human Genetics. 87 (2023) 6 - p. 285-294 , 2023

Link: https://doi.org/10.1111/..

7

Levodopa‐refractory hyperprolactinemia and pituitary findin..:

Yıldız, Yılmaz ; Kuseyri Hübschmann, Oya ; Akgöz Karaosmanoğlu, Ayça...
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 431-446 , 2023

Link: https://doi.org/10.1002/..

8

Clinical and bi-genomic DNA findings of patients suspected ..:

Gedikbasi, Asuman ; Toksoy, Guven ; Karaca, Meryem...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

9

A multinational study of acute and long‐term outcomes of Ty..:

Katler, Quinton S. ; Stepien, Karolina M. ; Paull, Nathan...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1106-1117 , 2022

Link: https://doi.org/10.1002/..

10

Cardiologic evaluation of Turkish mitochondrial fatty acid ..:

Balci, Mehmet Cihan ; Karaca, Meryem ; Ergul, Yakup...
Pediatrics International. 64 (2022) 1 - p. , 2022

Link: https://doi.org/10.1111/..

11

The Use of Social Network in Daily Pediatric Practice and E..:

Gönüllü, Erdem ; Soysal, Ahmet ; Can, İlkay...
International Journal of Pediatrics. 2020 (2020) - p. 1-7 , 2020

Link: https://doi.org/10.1155/..

12

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Cli..:

Grünert, Sarah Catharina ; Schlatter, Sonja Marina ; Schmitt, Robert Niklas...
Molecular Genetics and Metabolism. 121 (2017) 3 - p. 206-215 , 2017

Link: https://doi.org/10.1016/..

13

Clinical presentation and outcome in a series of 32 patient..:

Grünert, Sarah Catharina ; Schmitt, Robert Niklas ; Schlatter, Sonja Marina...
Molecular Genetics and Metabolism. 122 (2017) 1-2 - p. 67-75 , 2017

Link: https://doi.org/10.1016/..

14

Clinical and bi-genomic DNA findings of patients suspected ..:

Gedikbasi, Asuman ; Toksoy, Guven ; Karaca, Meryem...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10292751/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Levodopa-refractory hyperprolactinemia and pituitary findin..:

Yıldız, Yılmaz ; Kuseyri Hübschmann, Oya ; Akgöz Karaosmanoğlu, Ayça...
info:eu-repo/semantics/altIdentifier/pmid/37452721. , 2023

Link: https://hdl.handle.net/1..