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Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants.

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Title: Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants.
Authors: Atmaca, Fatma Güliz1 (AUTHOR), Doğan, Özlem Akgün2 (AUTHOR), Kutlubay, Büşra3 (AUTHOR), Kırmızıbekmez, Heves1 (AUTHOR) heveskirmizibekmez@yahoo.com
Source: Journal of Clinical Research in Pediatric Endocrinology. 2026, Vol. 18 Issue 1, p181-185. 5p.
Database: Academic Search Ultimate
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  Data: Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants.
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  Data: <searchLink fieldCode="AR" term="%22Atmaca%2C+Fatma+Güliz%22">Atmaca, Fatma Güliz</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Doğan%2C+Özlem+Akgün%22">Doğan, Özlem Akgün</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kutlubay%2C+Büşra%22">Kutlubay, Büşra</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kırmızıbekmez%2C+Heves%22">Kırmızıbekmez, Heves</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> heveskirmizibekmez@yahoo.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Clinical+Research+in+Pediatric+Endocrinology%22">Journal of Clinical Research in Pediatric Endocrinology</searchLink>. 2026, Vol. 18 Issue 1, p181-185. 5p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=192307581
RecordInfo BibRecord:
  BibEntity:
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      – Type: doi
        Value: 10.4274/jcrpe.galenos.2023.2023-7-1
    Languages:
      – Code: eng
        Text: English
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        PageCount: 5
        StartPage: 181
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      – TitleFull: Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants.
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          Name:
            NameFull: Atmaca, Fatma Güliz
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            NameFull: Doğan, Özlem Akgün
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            NameFull: Kutlubay, Büşra
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            NameFull: Kırmızıbekmez, Heves
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            – D: 01
              M: 03
              Text: 2026
              Type: published
              Y: 2026
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              Value: 13085727
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              Value: 18
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              Value: 1
          Titles:
            – TitleFull: Journal of Clinical Research in Pediatric Endocrinology
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