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Items: 1 to 20 of 192


Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a de Novo 22q11.1q11.22 Duplication.

Vaisvilas M, Dirse V, Aleksiuniene B, Tamuliene I, Cimbalistiene L, Utkus A, Rascon J.

Balkan J Med Genet. 2018 Oct 29;21(1):87-91. doi: 10.2478/bjmg-2018-0002. eCollection 2018 Jun.


Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature.

Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B.

Balkan J Med Genet. 2018 Oct 29;21(1):83-86. doi: 10.2478/bjmg-2018-0005. eCollection 2018 Jun.


Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

Strajnar A, Tansek MZ, Podkrajsek KT, Battelino T, Groselj U.

Balkan J Med Genet. 2018 Oct 29;21(1):77-81. doi: 10.2478/bjmg-2018-0014. eCollection 2018 Jun.


Problems of Unknown Significance: Counseling in the Era of Next Generation Sequencing.

Fahrioğlu U.

Balkan J Med Genet. 2018 Oct 29;21(1):73-76. doi: 10.2478/bjmg-2018-0003. eCollection 2018 Jun.


Mutation in Phospholipase C, δ1 (PLCD1) Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of the Literature.

Khan AK, Khan SA, Muhammad N, Muhammad N, Ahmad J, Nawaz H, Nasir A, Farman S, Khan S.

Balkan J Med Genet. 2018 Oct 29;21(1):69-72. doi: 10.2478/bjmg-2018-0001. eCollection 2018 Jun.


UGT1A1 (TA)n Promoter Genotype: Diagnostic and Population Pharmacogenetic Marker in Serbia.

Vukovic M, Radlovic N, Lekovic Z, Vucicevic K, Maric N, Kotur N, Gasic V, Ugrin M, Stojiljkovic M, Dokmanovic L, Zukic B, Pavlovic S.

Balkan J Med Genet. 2018 Oct 29;21(1):59-68. doi: 10.2478/bjmg-2018-0012. eCollection 2018 Jun.


The Mitochondrial tRNAGly T10003C Mutation may not be Associated with Diabetes Mellitus.

Yuan Q, Zhao ZG, Yuan HJ.

Balkan J Med Genet. 2018 Oct 29;21(1):53-57. doi: 10.2478/bjmg-2018-0006. eCollection 2018 Jun.


Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M.

Balkan J Med Genet. 2018 Oct 29;21(1):47-52. doi: 10.2478/bjmg-2018-0009. eCollection 2018 Jun.


PPAR𝛾 Gene and Atherosclerosis: Genetic Polymorphisms, Epigenetics and Therapeutic Implications.

Grbić E, Peterlin A, Kunej T, Petrovič D.

Balkan J Med Genet. 2018 Oct 29;21(1):39-46. doi: 10.2478/bjmg-2018-0011. eCollection 2018 Jun.


ADRB2 Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma.

Jovicic N, Babic T, Dragicevic S, Nestorovic B, Nikolic A.

Balkan J Med Genet. 2018 Oct 29;21(1):33-38. doi: 10.2478/bjmg-2018-0007. eCollection 2018 Jun.


Association of E-selectin S128R Polymorphism with Hereditary Breast Carcinoma Susceptibility in Turkish Patients Without BRCA1/2 Germline Mutations.

Yararbas K, Atalay PB.

Balkan J Med Genet. 2018 Oct 29;21(1):27-31. doi: 10.2478/bjmg-2018-0004. eCollection 2018 Jun.


Analysis of the PPARD Gene Expression Level Changes in Football Players in Response to the Training Cycle.

Domańska-Senderowska D, Snochowska A, Szmigielska P, Jastrzębski Z, Jegier A, Kiszałkiewicz J, Dróbka K, Jastrzębska J, Pastuszak-Lewandoska D, Cięszczyk P, Maciejewska-Skrendo A, Zmijewski P, Brzeziańska-Lasota E.

Balkan J Med Genet. 2018 Oct 29;21(1):19-25. doi: 10.2478/bjmg-2018-0008. eCollection 2018 Jun.


Detecting EGFR Mutations in Patients with Non-small Cell Lung Cancer.

Hammoudeh ZA, Antonova O, Staneva R, Nikolova D, Kyuchukov Y, Penev A, Mintchev T, Koleva V, Hadjidekova S, Toncheva D.

Balkan J Med Genet. 2018 Oct 29;21(1):13-17. doi: 10.2478/bjmg-2018-0013. eCollection 2018 Jun.


Family History as an Important Factor for Stratifying Participants in Genetic Studies of Major Depression.

Zalar B, Blatnik A, Maver A, Klemenc-Ketiš Z, Peterlin B.

Balkan J Med Genet. 2018 Oct 29;21(1):5-12. doi: 10.2478/bjmg-2018-0010. eCollection 2018 Jun.


Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism.

E O M.D, G T, T E, O E, B A, S A.

Balkan J Med Genet. 2017 Dec 29;20(2):95-98. doi: 10.1515/bjmg-2017-0031. eCollection 2017 Dec.


Female and Male Carriers of TAZ Mutations Need to be Thoroughly Investigated.

J F, C S.

Balkan J Med Genet. 2017 Dec 29;20(2):91-94. doi: 10.1515/bjmg-2017-0030. eCollection 2017 Dec. No abstract available.


Epidermal Growth Factor Receptor Mutation Status: Does Younger Mean More Frequently Mutated?

P W, P K, J CW, K R, K D, B MB, J P, K WK, G C, R R, M S, A G Ph.D, T O, T G, M P, K RŚ, J M.

Balkan J Med Genet. 2017 Dec 29;20(2):89-90. doi: 10.1515/bjmg-2017-0029. eCollection 2017 Dec. No abstract available.


Detection of Allelic Variants of the POLE and POLD1 Genes in Colorectal Cancer Patients.

LA P, D B, Z D, J G, E M.

Balkan J Med Genet. 2017 Dec 29;20(2):83-88. doi: 10.1515/bjmg-2017-0028. eCollection 2017 Dec.


Differential Expression of FGFRs Signaling Pathway Components in Bladder Cancer: A Step Toward Personalized Medicine.

Z OA, J TB, Sa S, Mr P, F M, R M, G P.

Balkan J Med Genet. 2017 Dec 29;20(2):75-82. doi: 10.1515/bjmg-2017-0026. eCollection 2017 Dec.


Superoxide Dismutase 1 and 2 Gene Polymorphism in Turkish Vitiligo Patients.

A T, G O, Tb G, E K M.D., Associacte Professor, H O, Sm G, O C.

Balkan J Med Genet. 2017 Dec 29;20(2):67-74. doi: 10.1515/bjmg-2017-0033. eCollection 2017 Dec.

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