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Köse, Melis
114  results:
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1

N-acetylcysteine and cysteamine bitartrate prevent azide-in..:

Haroon, Suraiya ; Yoon, Heeyong ; Seiler, Christoph...
Human Molecular Genetics.  32 (2023)  12 - p. 1988-2004 , 2023
Link: https://doi.org/10.1093/..
 
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2

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, Ella F. ; Chilian, Madison ; Karimiani, Ehsan Ghayoor...
Genetics in Medicine.  25 (2023)  2 - p. 100332 , 2023
Link: https://doi.org/10.1016/..
 
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3

Metabolic and Mitochondrial Myopathies:

, In: Clues for Differential Diagnosis of Neuromuscular Disorders,
Canda, Ebru ; Köse, Melis ; Diniz, Gulden - p. 249-273 , 2023
Link: https://doi.org/10.1007/..
 
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4

Gaucher Disease Diagnosed During Adolescence:

Güler, Selen ; Çağan Appak, Yeliz ; Onbaşı Karabağ, Şenay...
Pediatric Academic Case Reports.  2 (2023)  1 - p. 29-32 , 2023
Link: https://doi.org/10.61107..
 
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5

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinica..:

Bozaci, Ayse Ergül ; Er, Esra ; Ünal, Aysel Tekmenuray...
Molecular Genetics and Metabolism Reports.  36 (2023)  - p. 100979 , 2023
Link: https://doi.org/10.1016/..
 
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6

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Arslan, Nur...
Life.  12 (2022)  11 - p. 1721 , 2022
Link: https://doi.org/10.3390/..
 
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7

A female case of 5,10-methenyltetrahydrofolate synthetase d..:

Cavusoglu, Dilek ; Kose, Melis ; Er, Esra...
Brain and Development.  44 (2022)  9 - p. 640-644 , 2022
Link: https://doi.org/10.1016/..
 
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8

A surprising cause of proteinuria: Answers:

Demir, Belde Kasap ; Kanık, Ali ; Köse, Melis..
Pediatric Nephrology.  37 (2022)  5 - p. 1033-1039 , 2022
Link: https://doi.org/10.1007/..
 
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9

A surprising cause of proteinuria: Questions:

Demir, Belde Kasap ; Kanık, Ali ; Köse, Melis..
Pediatric Nephrology.  37 (2022)  5 - p. 1031-1032 , 2022
Link: https://doi.org/10.1007/..
 
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10

Expanding the spectrum of VAC14 related pediatric-onset neu..:

Karaoğlu, Pakize ; Köse, Melis
European Journal of Medical Genetics.  64 (2021)  1 - p. 104117 , 2021
Link: https://doi.org/10.1016/..
 
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11

Inborn errors of metabolism in palliative care:

Harputluoğlu, Nilgün ; Köse, Melis ; Yılmaz, Ünsal.
Pediatrics International.  63 (2021)  10 - p. 1175-1179 , 2021
Link: https://doi.org/10.1111/..
 
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12

Biallelic ZNFX1 variants are associated with a spectrum of ..:

Alawbathani, Salem ; Westenberger, Ana ; Ordonez‐Herrera, Natalia...
Clinical Genetics.  101 (2021)  2 - p. 247-254 , 2021
Link: https://doi.org/10.1111/..
 
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13

Neuronal ceroid lipofuscinosis: genetic and phenotypic spec..:

Kose, Melis ; Kose, Engin ; Ünalp, Aycan...
Neurological Sciences.  42 (2021)  3 - p. 1103-1111 , 2021
Link: https://doi.org/10.1007/..
 
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14

The effect of ketogenic diet on serum lipid concentrations ..:

Yılmaz, Ünsal ; Edizer, Selvinaz ; Köse, Melis...
Seizure.  91 (2021)  - p. 99-107 , 2021
Link: https://doi.org/10.1016/..
 
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15

Cascade screening and treatment of children with familial h..:

Kose, Engin ; Kose, Melis ; Ozturk, Sureyya Ipek...
Journal of Pediatric Endocrinology and Metabolism.  33 (2020)  10 - p. 1251-1256 , 2020
Link: https://doi.org/10.1515/..
 
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