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1 . Academic Journal
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
저자
by
Lafcı, Naz Guleray
;
Colak, Fatma Kurt
;
Sahin, Gulseren
;
Sakar, Merve
;
Çetinkaya, Semra
, et al.
소스
Hormones; Sep2021, Vol. 20 Issue 3, p581-585, 5p
Web of Science
Scopus
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7 . Academic Journal
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
저자
by
Dundar, Munis
;
Fahrioglu, Umut
;
Yildiz, Saliha Handan
;
Bakir-Gungor, Burcu
;
Temel, Sehime Gulsun
, et al.
소스
Functional & Integrative Genomics
. 22(3):291-315
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
저자
by
Colak, Fatma Kurt
;
Guleray, Naz
;
Azapagasi, Ebru
;
Yazıcı, Mutlu Uysal
;
Aksoy, Erhan
, et al.
소스
Acta Neurologica Belgica; Dec2020, Vol. 120 Issue 6, p1425-1432, 8p
Web of Science
Scopus
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7 . Academic Journal
Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl.
저자
by
TORUN, Emine Gulsah
;
YILDIZ, Yılmaz
;
YAZICI, Mutlu UYSAL
;
ÇOLAK, Fatma KURT
;
Kasapkara, Cigdem Seher
.
소스
Klinische Pädiatrie; 2021, Vol. 233 Issue 4, p203-205, 3p
Web of Science
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7 . Periodical
An intronic variant in BRAT1creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity
저자
by
Colak, Fatma Kurt
;
Guleray, Naz
;
Azapagasi, Ebru
;
Yazıcı, Mutlu Uysal
;
Aksoy, Erhan
, et al.
소스
Acta neurologica Belgica; December 2020, Vol. 120 Issue: 6 p1425-1432, 8p
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
An intronic variant inBRAT1creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity
저자
by
Colak, Fatma Kurt
;
Guleray, Naz
;
Azapagasi, Ebru
;
Yazici, Mutlu Uysal
;
Aksoy, Erhan
, et al.
소스
ACTA NEUROLOGICA BELGICA
; DEC 2020, 120 6, p1425-p1432, 8p.
Scopus
Web of Science
JCR 저널정보
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7 . Academic Journal
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway
저자
by
Lafci, Naz Guleray
;
Colak, Fatma Kurt
;
Sahin, Gulseren
;
Sakar, Merve
;
Cetinkaya, Semra
, et al.
소스
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
; NOV 7 2020, 5p.
Scopus
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7 . Academic Journal
Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl
저자
by
Torun, Emine Gulsah
;
Yildiz, Yilmaz
;
Yazici, Mutlu Uysal
;
Colak, Fatma Kurt
;
Kasapkara, Cigdem Seher
.
소스
KLINISCHE PADIATRIE
; OCT 9 2020, 3p.
Scopus
Web of Science
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7 . Academic Journal
Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant
저자
by
Yildiz, Yilmaz
;
Yazici, Mutlu Uysal
;
Cinar, Hasibe Gokce
;
Hosnut, Ferda Ozbay
;
Colak, Fatma Kurt
, et al.
소스
PANCREATOLOGY
; JUN 2020, 20 4, p644-p646, 3p.
Full Text (ScienceDirect)
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7 . Academic Journal
Juvenil Myelomonositik Losemi İle İliskili Maternal Kalıtım Gösteren Novel Bir CBL Mutasyonu.
저자
by
Çolak, Fatma Kurt
;
Lafcı, Naz Güleray
.
소스
Gazi Medical Journal
. 2019 Supplement, Vol. 30 Issue 4a, pP6-P6. 1/3p.
Scopus
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