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Akar, Halil Tuna
40  results:
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1

Case presentation: a severe case of cobalamin c deficiency ..:

Akar, Halil Tuna ; Yıldız, Harun ; Öztürk, Zeynelabidin...
BMC Nephrology.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

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/..
 
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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

Adult-onset carnitine palmitoyl transferase II (CPT II) def..:

Akar, Halil Tuna ; Yıldız, Yılmaz ; Mutluay, Rüya..
CEN Case Reports.  13 (2023)  2 - p. 81-85 , 2023
Link: https://doi.org/10.1007/..
 
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5

Challenging diagnosis and rare disease in children: Dermati..:

Isiyel, Emel ; Ersoy Evans, Sibel ; Akar, Halil Tuna...
Journal of Paediatrics and Child Health.  57 (2021)  10 - p. 1710-1712 , 2021
Link: https://doi.org/10.1111/..
 
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6

Complicated peripartum course in a patient with very long-c..:

Akar, Halil Tuna ; Çağan, Murat ; Yıldız, Yılmaz.
Neuromuscular Disorders.  31 (2021)  6 - p. 566-569 , 2021
Link: https://doi.org/10.1016/..
 
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7

Clinical and Immunological Characteristics of 63 Patients w..:

Akar, Halil Tuna ; Esenboga, Saliha ; Cagdas, Deniz...
Journal of Clinical Immunology.  41 (2021)  5 - p. 992-1003 , 2021
Link: https://doi.org/10.1007/..
 
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8

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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9

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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10

A Novel Double Homozygous BTD Gene Mutation in A Case of Pr..:

AKAR, HALİL TUNA ; YILDIZ, YILMAZ ; DEVECİ, KÜBRA.
2e242f31-fe20-40c4-b862-79e025286a66.  , 2022
Link: https://doi.org/10.12956..
 
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11

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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12

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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13

Autism spectrum disorder in patients with inherited metabol..:

ÖZMERT, ELİF NURSEL ; COŞKUN, TURGAY ; BİLGİNER GÜRBÜZ, BERRAK..
f522bff4-12d5-4b7c-a654-7ed09ba9655a.  , 2021
Link: https://doi.org/10.24953..
 
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14

Autism spectrum disorder in patients with inherited metabol..:

Yoldas, TUBA ; Gurbuz, Berrak Bilginer ; AKAR, HALİL TUNA..
f522bff4-12d5-4b7c-a654-7ed09ba9655a.  , 2021
Link: https://doi.org/10.24953..
 
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15

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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