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1 . Academic Journal
Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate
저자
by
Çağrı Cumhur Gök
;
Özge Kaynar
;
Leyli Şentürk
;
Emrah Can
;
Şahin Hamilçıkan
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소스
Bagcilar Medical Bulletin, Vol 8, Iss 1, Pp 103-106 (2023)
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7 .
A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene
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by
Dilek Gunes
;
Ozlem Kalaycik Sengul
;
Leyli Senturk
.
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Journal of Pediatric Endocrinology and Metabolism
.
Scopus
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5 .
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis
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by
Tugba Sarac Sivrikoz
;
Tugba Kalayci
;
Leyli Senturk
;
Volkan Karaman
;
Ibrahim Halil Kalelioglu
, et al.
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Prenatal diagnosisREFERENCES
. 42(12)
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7 .
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
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by
Elif Yilmaz Gulec
;
Gozde Tutku Turgut
;
Alper Gezdirici
;
Volkan Karaman
;
Fatma Nihal Ozturk
, et al.
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Clinical geneticsREFERENCES
. 102(3)
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7 .
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients
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by
Anna Altmann
;
Lina Basel-Vanagaite
;
Olga Calabrese
;
Katalin Szakszon
;
Guntram Borck
, et al.
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American journal of medical genetics. Part A
. 176(1)
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