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Molecular Syndromology

IF0.9
Papers67
Citations1
Journal Papers 67
Publication Date
A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye
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deleteSogukpinar, Merve; Atas, Yavuz; Uner, Gulcan; Arslan, Perver; Tugrul, Hazal Ceren; Unlu, Havva Akmaz; Sayici, Basak Uzunyayla
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Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration
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deleteBawa, Pratibha; Rzasa, Jessica; Kerkhof, Jennifer; Levy, Michael A.; Sadikovic, Bekim; Gupta, Shifali; Sharma, Rajni; Srivastava, Priyanka; Panigrahi, Inusha; Kaur, Anupriya
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PHRINL Syndrome: A Case of Infantile Cataract and Cardiomyopathy
delete2026-04-01
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deleteGulbahce, Aliye; Deniz, Adnan; Tekin, Ismihan Merve; Kara, Bulent
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Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant
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deleteKolkiran, Abdulkerim; Bir, Firdevs Dincsoy; Ergun, Bilgesu Arikan; Daylak, Alisan; Citirik, Mehmet; Kulali, Melike Ataseven
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A Rare Cause of Thyroid Hormone Abnormalities in an Adolescent: A Case Report of SBP2 (SECISBP2) Deficiency
delete2026-03-01
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deleteOzdemir Akgun, Sevgi; Bolac Ozyilmaz, Gizem Leyla; Cetincelik, Umran; Dagdeviren Cakir, Aydilek; Ucar, Ahmet
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Cytomolecular Analysis of a Ring X Chromosome in a Patient with Turner Syndrome: A Case Report
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deleteCruz da Silva, Evellyn Karine; Rocha, Ruan Barboza; de Sousa Passos, Paloma; Correa de Oliveira, Edivaldo Herculano; Liehr, Thomas; Serrao das Neves, Daria Barroso; Benzaquem, Denise Correa; Fantin, Cleiton
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Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report
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deleteKececi, Ramazan; Kececi, Hayriye Nermin; Buyukeren, Melek; Yilmaz, Fatma Hilal; Ozcan, Beyza
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Role of Hyperlipidemia-Related PCSK9, APOE, and LRP8 Variants in Restenosis after Stent Implantation in Male Patients: A Case-Control Study
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deleteOzkara, Gulcin; Aslan, Ezgi Irmak; Ser, Ozgur Selim; Kilicarslan, Onur; Kucukhuseyin, Ozlem; Bostan, Cem; Yildiz, Ahmet; Ozturk, Oguz; Yilmaz-Aydogan, Hulya
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CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant
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deleteGokdemir, Irem; Cetin, Sirmen Kizilcan; Kilic, Esra; Buyukyilmaz, Gonul; Deligozoglu, Duygu; Gurbuz, Fatih; Boyraz, Mehmet
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Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion
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deleteBurssed, Bruna; Zamariolli, Malu; Favilla, Bianca Pereira; Brunoni, Decio; Kulikowski, Leslie Domenici; Bellucco, Fernanda Teixeira; Melaragno, Maria Isabel
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CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review
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deleteManav Yigit, Zehra; Ozyavuz Cubuk, Pelin; Bayrak, Kamil Utku; Duz, Mehmet Bugrahan; Yuksel, Adnan
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Investigation of the Expression Levels of Exosomal miRNAs in the Patients: Myocardial Infarction with Nonobstructive Coronary Arteries
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deleteYalcintepe, Sinem; Altay, Servet; Demir, Melik; Sezginer Guler, Hazal; Zhuri, Drenushe; Sut, Necdet; Demir, Selma; Atli, Engin; Atli, Emine Ikbal; Eker, Damla; Gurkan, Hakan
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Gillespie Syndrome: Greek Patient with Novel Mutation and Atypical Presentation - Expansion of the Phenotype and Literature Review
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deleteLithoxopoulou, Maria; Alvanou, Maria; Pavlidou, Efterpi; Tziola, Tatiana; Babatseva, Evgenia; Drogouti, Eftychia; Tramma, Despoina; Sterpi, Magdalini; Papadopoulou, Ariadni; Seliniotaki, Aikaterini K.; Diamanti, Elissavet; Tsakalidis, Christos; Mataftsi, Asimina; Ververi, Athina
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Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance
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deleteKilic, Mustafa; Sayar, Esra; Icil, Suzan; Sezer, Abdullah
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SHH Variant in a Father and a Son with Tracheobronchial Malformation
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deleteKnottnerus, Suzan J. G.; Prevaes, Sabine M. P. J.; Geerlings, Maartje J.; Kamsteeg, Erik-Jan; Nijman, Joppe; de Jong, Pim A.; de Bie, Charlotte I.; Vorselaars, Adriane D. M.
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Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature
delete2026-02-01
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deleteArslan, Gulcin; Turan, Benay; Cinleti, Tayfun; Yalcin, Hatice Yelda; Kaya, Ozge Ozer; Onguner, Sevim; Vural, Gulumay; Nasirli, Muge; Birinci, Hakan; Arslan, Emrullah; Eroglu Filibeli, Berna; Er, Eren; Dundar, Bumin Nuri
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