Search Results - "MUTLU, Mehmet Burak"

Utility of Optical Genome Mapping in Repeat Disorders by Mutlu, Mehmet Burak, Karakaya, Taner, Çelebi, Hamide Betül Gerik, Duymuş, Fahrettin, Seyhan, Serhat, Yılmaz, Sanem, Yiş, Uluç, Atik, Tahir, Yetkin, Mehmet Fatih, Gümüş, Hakan

“…Genomic repeat sequences are patterns of nucleic acids that exist in multiple copies throughout the genome. More than 60 Mendelian disorders are caused by the…”
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Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg by Cetinkaya, Arda, Karaman, Ali, Mutlu, Mehmet Burak, Yavuz, Taner

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YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review by Sanri, Aslihan, Kaya, Mehmet Burak, Sezer, Ozlem

“…Kaya-Barakat-Masson syndrome (KABAMAS) is a recently identified severe neurodevelopmental disorder characterized by severe global developmental delay,…”
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Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy by Gonzalez, Carlos Dominguez, Sanderson, Leslie E., Depace, Raffaella, Helman, Guy, Wu, Kaiyuan, Disanza, Brianna, Pizzino, Amy, Schmidt, Johanna, Muirhead, Kayla, Bonkowsky, Joshua, Taft, Ryan, Sannaa, Nouriya, Dias, Patrícia, Mutlu, Mehmet Burak, Bertoli-Avella, Aida M., Maroofian, Reza, Barakat, Tahsin Stefan, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca, Simons, Cas, Wolvetang, Ernst, Sack, Michael N., van Ham, Tjakko, Hsiao-Sánchez, Nicole, Bonifacino, Juan S., Vanderver, Adeline

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A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus by Mutlu, Mehmet Burak, Cetinkaya, Arda, Koc, Nermin, Ceylaner, Gulay, Erguner, Bekir, Aydın, Hatip, Karaman, Selin, Demirci, Oya, Goksu, Kamber, Karaman, Ali

“…Abstract Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs,…”
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Significance of Maternal Serum Folate and Vitamin B12 levels with Factor V leiden, Factor II g.20210G>A, MTHFR C667T and MTHFR A1298C variations in Anencephaly by Hatip Aydin, Resul Arisoy, Ali Karaman, Arda Çetinkaya, Emre Erdoğdu, Oya Demirci, Mehmet Burak Mutlu

“…AimExact etiology of multifactorial anencephaly is still unclear. For a better understanding of the etiology, we sought to determine serum levels of folate and…”
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Geç Tanılı Rubinstein-Taybi Sendromlu Bir Olgu by AYDIN, Hatip, ÇETİNKAYA, Arda, KARAMAN, Ali, MUTLU, Mehmet Burak, TAKA AYDIN, Ümeyye

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A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus by Mutlu, Mehmet Burak, Cetinkaya, Arda, Koc, Nermin, Ceylaner, Gulay, Erguner, Bekir, Aydın, Hatip, Karaman, Selin, Demirci, Oya, Goksu, Kamber, Karaman, Ali

“…Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal…”
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Antenatal Tanılı Turner Sendromunda Bilateral Renal Agenezi ve Aort Stenozu by hakyemez toptan, handan, Karadağ, Nilgün, Tüten, Abdülhamit, Gökmen YILDIRIM, Tülin, Akay, Gülsen, Mutlu, Mehmet Burak, KARATEKİN, Güner

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