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1 . Report
A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
저자
by
Gunes, Dilek
;
Senturk, Leyli
.
소스
Journal of Pediatric Endocrinology and Metabolism
. 36(8):791-797
Full Text(De Gruyter)
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4 . Academic Journal
JAG1 MUTATION SPECTRUM IN CASES WITH ALAGILLE SYNDROME FROM TURKIYE.
저자
by
ASLANGER, Ayça Dilruba
;
YILDIRIM, Behiye Tuğçe
;
KALAYCI, Tuğba
;
ŞENTÜRK, Leyli
;
AVCI, Şahin
, et al.
소스
Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
. 2023, Vol. 86 Issue 4, p327-335. 9p.
Scopus
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7 . Report
A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene
저자
by
Gunes, Dilek
;
Kalaycik Sengul, Ozlem
;
Senturk, Leyli
.
소스
Journal of Pediatric Endocrinology and Metabolism
. 36(7):704-707
Full Text(De Gruyter)
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5 . Academic Journal
Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate.
저자
by
Gök, Çağrı Cumhur
;
Kaynar, Özge
;
Şentürk, Leyli
;
Can, Emrah
;
Hamilçıkan, Şahin
.
소스
Bagcilar Medical Bulletin / Bağcılar Tıp Bülteni; 2023, Vol. 8 Issue 1, p103-106, 4p
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7 . Academic Journal
Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
저자
by
Yilmaz Gulec, Elif
;
Turgut, Gozde Tutku
;
Gezdirici, Alper
;
Karaman, Volkan
;
Ozturk, Fatma Nihal
, et al.
소스
Clinical Genetics
. Sep2022, Vol. 102 Issue 3, p201-217. 17p.
Web of Science
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7 . Academic Journal
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
저자
by
Sarac Sivrikoz, Tugba
;
Kalayci, Tugba
;
Senturk, Leyli
;
Karaman, Volkan
;
Kalelioglu, Ibrahim Halil
, et al.
소스
Prenatal Diagnosis; Nov2022, Vol. 42 Issue 12, p1503-1510, 8p
Web of Science
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7 . Academic Journal
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
저자
by
Palencia‐Campos, Adrián
;
Martínez‐Fernández, María‐Luisa
;
Altunoglu, Umut
;
Soto‐Bielicka, Patricia
;
Torres, Antonio
, et al.
소스
Human Mutation; Jan2020, Vol. 41 Issue 1, p265-276, 12p
Web of Science
Scopus
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7 . Academic Journal
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
저자
by
Yilmaz, Rüstem
;
Szakszon, Katalin
;
Altmann, Anna
;
Altunoglu, Umut
;
Senturk, Leyli
, et al.
소스
American Journal of Medical Genetics Part A
. Jan 01, 2018 176(1):187-193
Web of Science
Scopus
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7 .
Kaufman oculocerebrofacial syndrome: novel mutations and clinical features in four unrelated patients
저자
by
Yilmaz, Rüstem
;
Szakszon, Katalin
;
Altmann, Anna
;
Altunoglu, Umut
;
Senturk, Leyli
, et al.
소스
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