Author/Creator: Topak, Ali - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Topak, Ali

1. A case with isochromosome 18p and 2q13 deletion including the BUB1 gene. Issue 3 (July 2018)

Authors:: Ayaz, Akif; Topak, Ali; Yalcintepe, Sinem; Celik, Tamer; Yararbas, Kanay; Eser, Metin; Yuregir, Ozge O.
Journal:: Clinical dysmorphology
Issue:: Volume 27:Issue 3(2018:Jul.)
Page Start:
Record Type:: Journal Article
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2. Associations analysis of GSTM1, T1 and P1 Ile105Val polymorphisms with carpal tunnel syndrome. Issue 5 (May 2016)

Authors:: Eroğlu, Pınar; Erkol İnal, Esra; Sağ, Şebnem; Görükmez, Özlem; Topak, Ali; Yakut, Tahsin
Journal:: Clinical rheumatology
Issue:: Volume 35:Issue 5(2016)
Page Start:: 1245
Record Type:: Journal Article
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3. Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants. Issue 1 (8th April 2022)

Authors:: Dorum, Sevil; Erdoğan, Hakan; Köksoy, Adem Yasin; Topak, Ali; Görükmez, Özlem
Journal:: Pediatrics international
Issue:: Volume 64:Issue 1(2022)
Page Start:: n/a
Record Type:: Journal Article
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4. Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review. Issue 7 (7th April 2020)

Authors:: Kılıç, Mustafa; Dorum, Sevil; Topak, Ali; Yazıcı, Mutlu U.; Ezgu, Fatih S.; Coskun, Turgay
Journal:: American journal of medical genetics
Issue:: Volume 182:Issue 7(2020)
Page Start:: 1608
Record Type:: Journal Article
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5. Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations. (2nd September 2021)

Authors:: Havali, Cengiz; Ekici, Arzu; Dorum, Sevil; Görükmez, Özlem; Topak, Ali
Journal:: Neurological research
Issue:: Volume 43:Number 9(2021)
Page Start:: 744
Record Type:: Journal Article
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6. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review. Issue 4 (October 2020)

Authors:: Duz, Mehmet Bugrahan; Topak, Ali
Journal:: Clinical dysmorphology
Issue:: Volume 29:Issue 4(2020:Oct.)
Page Start:
Record Type:: Journal Article
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