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Onay, Hüseyin
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1

Chanarin-Dorfman Syndrome diagnosed at the stage of liver t..:

Durmazer, Esra ; Demir, Meryem ; Onay, Huseyin.
Journal of Clinical Lipidology.  18 (2024)  1 - p. e125-e128 , 2024
Link: https://doi.org/10.1016/..
 
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2

Investigation of the molecular genetic causes of non-syndro..:

Er, Eren ; Aşıkovalı, Semih ; Özışık, Hatice...
Archives of Endocrinology and Metabolism.  68 (2024)  - p. , 2024
Link: https://doi.org/10.20945..
 
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3

Facilitating intrafamily communication to enable earlier di..:

Germain, Dominique P. ; Al Murshedi, Fathiya ; Al Jasmi, Fatma...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107838 , 2024
Link: https://doi.org/10.1016/..
 
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4

Molecular diagnosis in patients with monogenic diabetes mel..:

Goksen, Damla ; Evin, Ferda ; Isik, Esra...
Diabetes Research and Clinical Practice.  205 (2023)  - p. 110953 , 2023
Link: https://doi.org/10.1016/..
 
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5

Prevalence of congenital sucrase-isomaltase deficiency in T..:

Taskin, Didem Gulcu ; Civan, Hasret Ayyildiz ; SarI, Emine Ergül...
Journal of Genetics.  102 (2023)  1 - p. , 2023
Link: https://doi.org/10.1007/..
 
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6

Clinical features of generalized lipodystrophy in Turkey: A..:

Yildirim Simsir, Ilgin ; Tuysuz, Beyhan ; Ozbek, Mehmet Nuri...
Diabetes, Obesity and Metabolism.  25 (2023)  7 - p. 1950-1963 , 2023
Link: https://doi.org/10.1111/..
 
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7

The role of vitamin D receptor gene polymorphism in the dev..:

Barut, Dogan ; Akisu, Mete ; Koroglu, Ozge Altun...
Pediatric Research.  94 (2023)  1 - p. 275-279 , 2023
Link: https://doi.org/10.1038/..
 
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8

A novel bi-allelic variant in the SDHB gene causes a severe..:

Ece Solmaz, Asli ; Pariltay, Erhan ; Talim, Beril.
Clinical Neurology and Neurosurgery.  212 (2022)  - p. 107039 , 2022
Link: https://doi.org/10.1016/..
 
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9

Medical students' opinions on career planning course: evalu..:

Çalışkan, S. Ayhan ; Durmaz, Seyfi ; Akçiçek, Selahattin Fehmi...
Turkish Journal of Biochemistry.  47 (2022)  4 - p. 539-544 , 2022
Link: https://doi.org/10.1515/..
 
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10

Clinical spectrum of early onset "Mediterranean" (homozygou..:

Kalkan Uçar, Sema ; Yazıcı, Havva ; Canda, Ebru...
JIMD Reports.  63 (2022)  5 - p. 484-493 , 2022
Link: https://doi.org/10.1002/..
 
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11

Expert opinion on the recognition, diagnosis and management..:

Ezgu, Fatih ; Alpsoy, Erkan ; Bicik Bahcebasi, Zerrin...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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12

Early-onset severe obesity due to homozygous p.R105W (c313C..:

Fırat, Sevde Nur ; Onay, Hüseyin
Obesity Research & Clinical Practice.  15 (2021)  6 - p. 600-603 , 2021
Link: https://doi.org/10.1016/..
 
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13

Tetrahydrobiopterin deficiencies: Lesson from clinical expe..:

Bozaci, Ayse Ergul ; Er, Esra ; Yazici, Havva...
JIMD Reports.  59 (2021)  1 - p. 42-51 , 2021
Link: https://doi.org/10.1002/..
 
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14

Mutation spectrum of the NF1 gene and genotype–phenotype co..:

Ece Solmaz, Asli ; Isik, Esra ; Atik, Tahir..
Clinical Neurology and Neurosurgery.  208 (2021)  - p. 106884 , 2021
Link: https://doi.org/10.1016/..
 
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15

Clinical Contribution of Next-Generation Sequencing Multige..:

Ece Solmaz, Aslı ; Yeniay, Levent ; Gökmen, Erhan...
Clinical Breast Cancer.  21 (2021)  6 - p. e647-e653 , 2021
Link: https://doi.org/10.1016/..
 
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