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Kahraman, Ayça Burcu
62  results:
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1

Long-term clinical evaluation of patients with alpha-mannos..:

Köse, Engin ; Kasapkara, Çiğdem Seher ; İnci, Aslı...
European Journal of Medical Genetics.  68 (2024)  - p. 104927 , 2024
Link: https://doi.org/10.1016/..
 
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2

Successful management of rhabdomyolysis with triheptanoin i..:

Kahraman, Ayca Burcu ; Yildiz, Yılmaz ; Gokmen-Ozel, Hulya..
Neuromuscular Disorders.  33 (2023)  4 - p. 315-318 , 2023
Link: https://doi.org/10.1016/..
 
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3

COVID-19 in inherited metabolic disorders: Clinical feature..:

Kahraman, Ayca Burcu ; Yıldız, Yılmaz ; Çıkı, Kısmet...
Molecular Genetics and Metabolism.  139 (2023)  2 - p. 107607 , 2023
Link: https://doi.org/10.1016/..
 
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4

Predictors of eventual requirement of phenylalanine-restric..:

Çıkı, Kısmet ; Yıldız, Yılmaz ; Kahraman, Ayça Burcu...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107706 , 2023
Link: https://doi.org/10.1016/..
 
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5

Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to..:

Kahraman, Ayca Burcu ; Karakaya, Bekir ; Yıldız, Yılmaz...
Neuromuscular Disorders.  32 (2022)  11-12 - p. 931-934 , 2022
Link: https://doi.org/10.1016/..
 
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6

Diagnostic distribution and postnatal evaluation of prenata..:

Kahraman, Ayca Burcu ; Simsek‐Kiper, Pelin Ozlem ; Utine, Gulen Eda.
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2367-2375 , 2022
Link: https://doi.org/10.1002/..
 
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7

Biallelic mutations in ELFN1 gene associated with developme..:

Dursun, Ali ; Yalnizoglu, Dilek ; Yilmaz, Didem Yucel...
European Journal of Medical Genetics.  64 (2021)  11 - p. 104340 , 2021
Link: https://doi.org/10.1016/..
 
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8

Novel Cranial Imaging Findings and a Splice-Site Variant in..:

YILDIZ, YILMAZ ; Lafci, Naz Guleray ; Tokatli, Ayseguel..
8fa9e199-bf9f-4874-832f-82623d82e3a4.  , 2022
Link: https://doi.org/10.1159/..
 
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9

Novel Cranial Imaging Findings and a Splice-Site Variant in..:

Kahraman, Ayca Burcu ; Akar, Halil Tuna ; Güleray Lafcı, Naz..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149457/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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10

Single Institutional Experience with GM1 Gangliosidosis: Cl..:

Tokatlı, AYŞEGÜL ; Yıldız, YILMAZ ; Sivri, Hatice Serap...
a6439f13-e9eb-4dc6-8298-8ace5dcd5708.  , 2022
Link: https://doi.org/10.4274/..
 
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11

COVID-19-related anxiety in phenylketonuria patients:

Kahraman, Ayça Burcu ; Yıldız, YILMAZ ; Tokatlı, AYŞEGÜL...
d2429515-200b-4196-834f-e207c42010a5.  , 2021
Link: https://doi.org/10.24953..
 
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12

Biallelic mutations in ELFN1 gene associated with developme..:

Dursun, Ali ; Yalnizoglu, Dilek ; Yilmaz, Didem Yucel...
https://aperta.ulakbim.gov.tr/record/230750.  , 2021
Link: https://aperta.ulakbim.g..
 
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13

Invisible burden of COVID-19: enzyme replacement therapy di..:

Dursun, Ali ; Tokatlı, AYŞEGÜL ; Yıldız, YILMAZ...
300bffa2-0e23-4b2b-a6c8-8b8dec779db4.  , 2021
Link: https://doi.org/10.1515/..
 
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14

Benign leiomyoma with multiple metastases to vertebrae and ..:

Elmaci, İlhan ; Altinoz, Meric A. ; Ozlu, Burcu Eylem Kahraman...
Neurosurgical Review.  44 (2020)  1 - p. 289-300 , 2020
Link: https://doi.org/10.1007/..
 
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15

Clinical and molecular evaluation of MEFV gene variants in ..:

Yararbas, Kanay ; Yilmaz, Mustafa ; Tasdemir, Mehmet...
Functional & Integrative Genomics.  , 2022
Link: https://hdl.handle.net/1..
 
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