Search Results - "Balkan Journal of Medical Genetics" :: UTM Library Massive Scholar Tracking

61

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family by Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD

Published 2019-08-01

“…Balkan Journal of Medical Genetics…”

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Article

62

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population by Babameto-Laku A, Mitre A, Berisha S, Mokini V, Roko D

Published 2011-01-01

“…Balkan Journal of Medical Genetics…”

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Article

63

The Prothrombin Factor II G20210A Mutation with Pulmonary Thromboembolism and a Normal Level of Fibrin Degradation Products by Nagorni-Obradovic Lj, Miljic P, Djordjevic V, Pešut D, Jovanovic D, Stojsic J, Stevic R, Radojkovic D

Published 2009-01-01

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Article

64

Increased expression of Cardiotrophin-1 in cardiomyopathy patients by Sharif S, Saleem A, Naz S, Rashid F, Iqtedar M, Kaleem A, Latif A

Published 2021-07-01

“…Balkan Journal of Medical Genetics…”

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Article

65

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing by Todorova A, Guergueltcheva V, Genova J, Mihaylova V, Todorov T, Tchamova T, Georgieva B, Kremensky I, Tournev I, Mitev V

Published 2009-01-01

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Article

66

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene by Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A

Published 2024-09-01

“…Balkan Journal of Medical Genetics…”

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Article

67

Mitochondrial DNA Mutations in two Bulgarian Children with Autistic Spectrum Disorders by Avdjieva-Tzavella D., Mihailova S., Lukanov C., Naumova E., Simeonov E., Tincheva R., Toncheva D.

Published 2012-12-01

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Article

68

Association Between Obsessive Compulsive Disorder And Tumor Necrosis Factor-Α Gene –308 (G>A) And –850 (C>T) Polymorphisms In Turkish Children by Lüleyap H.U., Onatoğlu D., Tahiroğlu A.Y., Alptekin D., Yılmaz M.B., Çetiner S., Pazarbaşı A., Ünal İ., Avcı A.

Published 2012-12-01

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Article

69

Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay by Mihaylova M, Staneva R, Toncheva D, Pancheva M, Hadjidekova S

Published 2017-06-01

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Article

70

Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family by Pop-Jordanova N, Zorcec T, Sukarova-Angelovska E

Published 2021-07-01

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Article

71

A Preliminary microRNA Analysis of non Syndromic Thoracic Aortic Aneurysms by Patuzzo Cristina, Pasquali A, Trabetti E, Malerba G, Pignatii PF, Tessari M, Faggian G

Published 2012-12-01

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Article

72

Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer by İzmirli M, Arikan B, Bayazit Y, Alptekin D

Published 2011-01-01

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Article

73

Clinical Relevance of CHEK2 And NBN Mutations in the Macedonian Population by Maleva Kostovska I., Jakimovska M., Kubelka-Sabit K., Karadjozov M., Arsovski A., Stojanovska L., Plaseska-Karanfilska Dijana

Published 2015-06-01

“…Balkan Journal of Medical Genetics…”

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Article

74

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports by Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou DI

Published 2016-06-01

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Article

75

Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2) by Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C

Published 2018-12-01

“…Balkan Journal of Medical Genetics…”

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Article

76

Unusual Manifestation of Extraosseous Ewing Sarcoma: Report of 3 Cases by Ioannidou M., Tsotridou E., Samoladas E., Tragiannidis A., Kouskouras K., Sfougaris D., Spyridakis I., Foroulis C., Galli-Tsinopoulou A., Hatzipantelis E.

Published 2022-12-01

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Article

77

UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia by Vukovic M, Radlovic N, Lekovic Z, Vucicevic K, Maric N, Kotur N, Gasic V, Ugrin M, Stojiljkovic M, Dokmanovic L, Zukic B, Pavlovic S

Published 2018-10-01

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Article

78

Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-ruvalcaba Syndrome by Soysal Y, Acun T, Lourenço C, Marques W, Yakıcıer M

Published 2012-01-01

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Article

79

A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia by Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska-Karanfilska D

Published 2013-06-01

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Article

80

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease by Tupitsina T, Slominsky P, Yufereva Y, Perova N, Aronov D, Limborska S

Published 2007-01-01

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Article

A novel c.973G>T mutation in the ε-subunit of the acetylcholine receptor causing congenital myasthenic syndrome in an iranian family by Karimzadeh P, Parvizi Omran S, Ghaedi H, Omrani MD

Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population by Babameto-Laku A, Mitre A, Berisha S, Mokini V, Roko D

The Prothrombin Factor II G20210A Mutation with Pulmonary Thromboembolism and a Normal Level of Fibrin Degradation Products by Nagorni-Obradovic Lj, Miljic P, Djordjevic V, Pešut D, Jovanovic D, Stojsic J, Stevic R, Radojkovic D

Increased expression of Cardiotrophin-1 in cardiomyopathy patients by Sharif S, Saleem A, Naz S, Rashid F, Iqtedar M, Kaleem A, Latif A

Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing by Todorova A, Guergueltcheva V, Genova J, Mihaylova V, Todorov T, Tchamova T, Georgieva B, Kremensky I, Tournev I, Mitev V

Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (TERT) Gene by Visekruna J, Basa M, Grba T, Andjelkovic M, Pavlovic S, Nathan N, Sovtic A

Mitochondrial DNA Mutations in two Bulgarian Children with Autistic Spectrum Disorders by Avdjieva-Tzavella D., Mihailova S., Lukanov C., Naumova E., Simeonov E., Tincheva R., Toncheva D.

Association Between Obsessive Compulsive Disorder And Tumor Necrosis Factor-Α Gene –308 (G>A) And –850 (C>T) Polymorphisms In Turkish Children by Lüleyap H.U., Onatoğlu D., Tahiroğlu A.Y., Alptekin D., Yılmaz M.B., Çetiner S., Pazarbaşı A., Ünal İ., Avcı A.

Benign, pathogenic and copy number variations of unknown clinical significance in patients with congenital malformations and developmental delay by Mihaylova M, Staneva R, Toncheva D, Pancheva M, Hadjidekova S

Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family by Pop-Jordanova N, Zorcec T, Sukarova-Angelovska E

A Preliminary microRNA Analysis of non Syndromic Thoracic Aortic Aneurysms by Patuzzo Cristina, Pasquali A, Trabetti E, Malerba G, Pignatii PF, Tessari M, Faggian G

Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer by İzmirli M, Arikan B, Bayazit Y, Alptekin D

Clinical Relevance of CHEK2 And NBN Mutations in the Macedonian Population by Maleva Kostovska I., Jakimovska M., Kubelka-Sabit K., Karadjozov M., Arsovski A., Stojanovska L., Plaseska-Karanfilska Dijana

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports by Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou DI

Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2) by Atli Eİ, Gurkan H, Atli E, Tozkir H, Varol GF, İnan C

Unusual Manifestation of Extraosseous Ewing Sarcoma: Report of 3 Cases by Ioannidou M., Tsotridou E., Samoladas E., Tragiannidis A., Kouskouras K., Sfougaris D., Spyridakis I., Foroulis C., Galli-Tsinopoulou A., Hatzipantelis E.

UGT1A1 (TA)n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia by Vukovic M, Radlovic N, Lekovic Z, Vucicevic K, Maric N, Kotur N, Gasic V, Ugrin M, Stojiljkovic M, Dokmanovic L, Zukic B, Pavlovic S

Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-ruvalcaba Syndrome by Soysal Y, Acun T, Lourenço C, Marques W, Yakıcıer M

A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia by Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska-Karanfilska D

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease by Tupitsina T, Slominsky P, Yufereva Y, Perova N, Aronov D, Limborska S

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