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PQDT
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RISS
PsycINFO

전체선택

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.

학술저널

issue: Turkish Archives of Pediatrics Sep2022; 57(5): 521-525. (5p)
Author: Tüysüz, Beyhan; ¹Ercan-Sençicek, Adife Gülhan; ²Özer, Emre; ¹Göç, Nükte; ²Yalçınkaya, Cengiz; ³Bilguvar, Kaya²
DB Label: Database : CINAHL Plus with Full Text

원문보기: Full Text (원문보기) 등재 - SCOPUS

Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified.

학술저널

issue: Journal of Obstetrics & Gynaecology Research (J OBSTET GYNAECOL RES), May2022; 48(5): 1202-1211. (10p)
Author: Karakaya, Cengiz; ^1,2Çil, Aylin Pelin; ³Bilguvar, Kaya; ^4,5,6Çakir, Tunahan; ⁷Karalok, Mete Hakan; ²Karabacak, Recep Onur; ⁸Caglayan, Ahmet Okay^5,9,10
DB Label: Database : CINAHL Plus with Full Text

원문보기: Full Text (Wiley-DB) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - RISS

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.

학술저널