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1 . Academic Journal
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study
저자
by
Köse, Engin
;
Kasapkara, Çiğdem Seher
;
İnci, Aslı
;
Yıldız, Yılmaz
;
Sürücü Kara, İlknur
, et al.
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European Journal of Medical Genetics
April 2024 68
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7 . Academic Journal
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
저자
by
Çıkı, Kısmet
;
Yıldız, Yılmaz
;
Kahraman, Ayça Burcu
;
Özgül, R. Köksal
;
Coşkun, Turgay
, et al.
소스
In
Molecular Genetics and Metabolism
November 2023 140(3)
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7 . Academic Journal
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
저자
by
Dursun, Ali
;
Yalnizoglu, Dilek
;
Yilmaz, Didem Yucel
;
Oguz, Kader Karli
;
Gülbakan, Basri
, et al.
소스
In
European Journal of Medical Genetics
November 2021 64(11)
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7 . Academic Journal
Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients
저자
by
Gürbüz, Berrak Bilginer
;
Yılmaz, Didem Yücel
;
Coşkun, Turgay
;
Tokatlı, Ayşegül
;
Dursun, Ali
, et al.
소스
In
European Journal of Medical Genetics
November 2020 63(11)
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7 . Academic Journal
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
저자
by
Yücel-Yılmaz, Didem
;
Yücesan, Emrah
;
Yalnızoğlu, Dilek
;
Oğuz, Kader Karlı
;
Sağıroğlu, Mahmut Şamil
, et al.
소스
In
Brain and Development
June 2018 40(6):458-464
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7 . Academic Journal
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism
저자
by
Unsal, Yagmur
;
Yurdakok, Murat
;
Yigit, Sule
;
Celik, Hasan Tolga
;
Dursun, Ali
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 35(11):1345-1356
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7 . Academic Journal
Phase recovery from interference fringes by using S-transform
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by
Dursun, Ali
;
Saraç, Zehra
;
Saraç Topkara, Hülya
;
Özder, Serhat
;
Necati Ecevit, F.
.
소스
In
Measurement
May 2008 41(4):403-411
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7 . Academic Journal
Calculation of Refractive Index Changes from Thermal Lens Fringes using Continuous Wavelet Algorithm
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by
Saraç, Zehra
;
Dursun, Ali
;
Yerdelen, Sündüs
;
Necati Ecevit, F.
.
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Optics and Laser Technology
2007 39(4):769-773
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6 . Academic Journal
The molecular basis of familial hypercholesterolaemia in Turkish patients
저자
by
Sözen, M. Mert
;
Whittall, Ros
;
Öner, Cihan
;
Tokatlı, Ayşegül
;
Kalkanoğlu, H. Serap
, et al.
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Atherosclerosis
2005 180(1):63-71
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7 . Academic Journal
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.
저자
by
Akar, Halil Tuna
;
Yıldız, Yılmaz
;
Güvenkaya, Gökhan
;
Çıkı, Kısmet
;
Kahraman, Ayşe Burcu
, et al.
소스
Balkan Medical Journal
. Sep2022, Vol. 39 Issue 5, p345-350. 6p.
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