Poster No. 1 (click to read as PDF)
- Title: Rehabilitation of people with rare diseases - patient-family centered approach
- Author(s): Simeonova R, Stefanov R
- Country: Bulgaria
Poster No. 2 (click to read as PDF)
- Title: National registry of patients with thalassemia in Bulgaria
- Author(s): Miteva T, Kaleva V, Stefanov R
- Country: Bulgaria
Poster No. 3 (click to read as PDF)
- Title: Rheumatologic features of lysosomal storage diseases
- Author(s): Batalov A, Karalilova R, Batalov Z
- Country: Bulgaria
Poster No. 4 (click to read as PDF)
- Title: Medico-social approach to rare diseases in the oral cavity
- Author(s): Stoykova M
- Country: Bulgaria
Poster No. 5 (click to read as PDF)
- Title: Primary congenital hypothyroidism (CH) associated with additional anomalies: phenotypic characterizatio and therapeutic approach
- Author(s): Stoeva I, Boneva I, Tincheva R, Avdzhieva D, Spasov L, Emilova R
- Country: Bulgaria
Poster No. 6 (click to read as PDF)
- Title: The list of rare cancers and its rationale
- Author(s): Gatta G, Trama A, Casali P, Dei Tos AP, Capocaccia R, Licitra L, Otter R and the RARECARE working group
- Country: Italy
Poster No. 7 (click to read as PDF)
- Title: Array CGH identified rare chromosomal micro-imbalances in three patients with congenital malformations and mental retardation
- Author(s): Hadzhidekova S, Avdzhieva D, Dimova I, Rukova B, Nesheva D, Tincheva R, Toncheva D
- Country: Bulgaria
Poster No. 8 (click to read as PDF)
- Title: The challenges of diagnosis and treatment of rare form of MODY1 diabetes
- Author(s): Yotova V, Ellard S, Galcheva S, Boyadzhiev V, Hattersley A
- Country: Bulgaria
Poster No. 9
- Title: Early behavioural alterations and the effects of a perinatal choline supplementation in a mouse model of Rett syndrome
- Author(s): De Filippis B, Ricceri L, Laviola G
- Country: Italy
Poster No. 10 (click to read as PDF)
- Title: Taurodontism of deciduous and permanent molars - a case report
- Author(s): Tomov G
- Country: Bulgaria
Poster No. 11 (click to read as PDF)
- Title: Growth hormone therapy in two children with Prader-Willi syndrome
- Author(s): Avdzhieva D
- Country: Bulgaria
Poster No. 12
- Title: Epilepsy and electroencephalographic anomalies in children with chromosomal aberrations
- Author(s): Diaconu G, Grigore I, Butnariu L, Burlea M, Trandafir L
- Country: Romania
Poster No. 13 (click to read as PDF)
- Title: A clinician protocol for orthodontic treatment of a patient with Turner syndrome
- Author(s): Peeva Y
- Country: Bulgaria
Poster No. 14 (click to read as PDF)
- Title: Interdisciplinary approach in management of the osteogenesis imperfecta
- Author(s): Puiu M, Badiu C, Marginean O, Mihailov D, Marcovici T, Dan D, Serban M
- Country: Romania
Poster No. 15 (click to read as PDF)
- Title: Communication, cognitive development and behavior for children with SPW
- Author(s): Puiu M, Gafencu M, Dan D, Stan V
- Country: Romania
Poster No. 16 (click to read as PDF)
- Title: Atherosclerosis among patients with familial mediterranean fever. Role of colchicinotherapy
- Author(s): Eganyan G, Petrosyan A
- Country: Armenia
Poster No. 17 (click to read as PDF)
- Title: Osteogenesis imperfecta in the Republic of Macedonia
- Author(s): Kocova M, Sukarova-Angelovska E, Papazovska A, Acevska A
- Country: Macedonia
Poster No. 18 (click to read as PDF)
- Title: Clinical case of Kallmann`s syndrome
- Author(s): Georgiev D, Botushanov N
- Country: Bulgaria
Poster No. 19 (click to read as PDF)
- Title: Velocardiofacial syndrome - phenotypic variability and management
- Author(s): Panzaru M, Rusu C, Volosciuc M, Braha E, Butnariu L, Popescu R, Caba L, Ivanov I, Covic M, Gorduza V
- Country: Romania
Poster No. 20 (click to read as PDF)
- Title: Rare case of echinococcosis located into the heart
- Author(s): Nikolov P, Krastev K, Tokmakova M, Nikolov F, Zdravkov N, Karastanev K
- Country: Bulgaria
Poster No. 21 (click to read as PDF)
- Title: Clinical case of a woman with multiple endocrine neoplasia syndrome type 1
- Author(s): Botushanov N, Troev D, Pavlova M, Georgiev D
- Country: Bulgaria
Poster No. 22 (click to read as PDF)
- Title: Williams syndrome - new case report, evaluation and management
- Author(s): Popescu R, Voloscuic M, Ivanov I, Covic M, Gorduza V
- Country: Romania
Poster No. 23 (click to read as PDF)
- Title: The contemporary "civilized" environment - a prerequisite for the occurrence of socially significant chronic diseases in children
- Author(s): Popivanova T
- Country: Bulgaria
Poster No. 24 (click to read as PDF)
- Title: Inversions and infertility
- Author(s): Caba L, Covic M, Rusu C, Voloscuic M, Butnariu L, Braha E, Panzaru M, Popescu R, Gramescu M, Bujoreanu C, Ivanov I, Gorduza V
- Country: Romania
Poster No. 25 (click to read as PDF)
- Title: Rare diseases management optimization in children and adolescents in Georgia (plan of actions)
- Author(s): Pagava K, Korinteli I
- Country: Georgia
Poster No. 26 (click to read as PDF)
- Title: Preliminary field-work of best guidance database for Turkish neuromuscular patients
- Author(s): Ozdemir C, Eraslan S, Ozgul H, Aksehirlioglu A
- Country: Turkey
Poster No. 27
- Title: Triggering factors for development of porphyria cutanea tarda in Bulgaria
- Author(s): Ivanova A, Antonov K, Adzharov D
- Country: Bulgaria
Poster No. 28
- Title: On the usage of bacteriophage therapy in the management of rare diseases and rare forms of common diseases in children and adolescents
- Author(s): Pagava K, Korinteli I, Metskhvarishvili G
- Country: Georgia
Poster No. 29 (click to read as PDF)
- Title: Familial cases of Nail-Patella syndrome (NPS)
- Author(s): Butnariu L, Volosciuc M, Burlacu M, Braha E, Caba L, Panzaru M, Popescu R, Covic M, Gorduza V
- Country: Romania
Poster No. 30 (click to read as PDF)
- Title: Disproportional short stature, normal mental development, hypophyseal hypoplasia, partial growth hormone deficiency and skeletal abnormalities in a boy
- Author(s): Stoeva I, Tincheva R, Avdzhieva D, Koleva R
- Country: Bulgaria
Poster No. 31 (click to read as PDF)
- Title: Networking and screening quality indicators
- Author(s): Stoeva I, Yotova V, Koleva R, Emilova R
- Country: Bulgaria
Poster No. 32 (click to read as PDF)
- Title: Peripheral primitive neuroectodermal tumor (PNET) of the lung in adults
- Author(s): Latifyan S, Yanchev Y, Trifonova M, Mazhdrakova D, Kalev D
- Country: Bulgaria
Poster No. 33
- Title: A novel mutation of gene runx2 in a patient with cleidocranial dysplasia
- Author(s): Belengeanu V, Stoian M, Andreescu N, Farcas S, Belengeanu D
- Country: Romania
Poster No. 34 (click to read as PDF)
- Title: Proximal myotonic myopathy (PROMM): a case presentation
- Author(s): Ivanov I, Panova M, Temenlieva V, Geneva I, Todorova A
- Country: Bulgaria
Poster No. 35 (click to read as PDF)
- Title: Two cases of Rett syndrome
- Author(s): Angelkova N, Sabolic-Avramovska V, Lekovska O, Duma F, Kuturec M
- Country: Macedonia
Poster No. 36 (click to read as PDF)
- Title: Ergotherapy stimulates independence in activities of daily living and reduces depression in patients with amyotrophic lateral sclerosis
- Author(s): Koleva I, Yoshinov R, Georgiev G
- Country: Bulgaria
Poster No. 37 (click to read as PDF)
- Title: Complex rehabilitation ameliorates quality of life of patients with Barre-Lieou syndrome
- Author(s): Koleva I, Yoshinov R
- Country: Bulgaria
Poster No. 38
- Title: Oral-facial-digital syndrome and the association of oral-facial-digital manifestations in two patients
- Author(s): Andreescu N, Belengeanu V, Farcas S, Popa C, Stoian M, Belengeanu D
- Country: Romania
Poster No. 39
- Title: Phenotype aspects of trisomy 18 syndrome - report of 2 cases
- Author(s): Farcas S, Belengeanu V, Popa C, Stoian M, Andreescu N
- Country: Romania
Poster No. 40
- Title: Burkitt lymphoma in a Romanian patient with Nijmegen syndrome
- Author(s): Popa C, Belengeanu V, Stoian M, Andreescu N, Farcas S, Belengeanu A, Ormerod E
- Country: Romania
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Poster No. 41
- Title: Harlequin ichthyosis - new case
- Author(s): Stoicanescu D, Belengeanu V, Andreescu N, Stoian M, Farcas S, Budisan C
- Country: Romania
Poster No. 42 (click to read as PDF)
- Title: Dental treatment of a child with ectodermal dysplasia - a case report
- Author(s): Ilieva E, Geordgeva D, Garabedyan V
- Country: Bulgaria
Poster No. 43 (click to read as PDF)
- Title: Juvenile dermatomyositis and lipodystrophy: a rare association
- Author(s): Stoyanova V, Petrova C, Nedkova V, Yordanova I
- Country: Bulgaria
Poster No. 44 (click to read as PDF)
- Title: Access to medicines for the treatment of rare diseases: the Bulgarian reality
- Author(s): Stoimenova A, Manova M, Petrova G
- Country: Bulgaria
Poster No. 45
- Title: Thrombocytopenia and absent radius (TAR) syndrome - case report
- Author(s): Stoian M, Belengeanu V, Andreescu N, Boia M, Matasaru A
- Country: Romania
Poster No. 46 (click to read as PDF)
- Title: Castleman`s disease - presentation of two cases and literature review
- Author(s): Goranova-Marinova V, Spasov E, Sotirova K, Dimitrov D, Stefanov C, Goranov S
- Country: Bulgaria
Poster No. 47 (click to read as PDF)
- Title: Therapeutic implications in patients with philadelphia - positive chronic myeloid leukemia, expressing p190 bcr/abl
- Author(s): Goranova-Marinova V, Spasov E, Balatsenko G, Stoimenov A, Goranov S
- Country: Bulgaria
Poster No. 48 (click to read as PDF)
- Title: Trisomy 8 mosaicism syndrome in two children from Bulgaria
- Author(s): Radeva B, Boneva I, Stancheva M
- Country: Bulgaria
Poster No. 49 (click to read as PDF)
- Title: Dysmorphology as a tool in detections of rare syndromes
- Author(s): Sukarova-Angelovska E, Kocova M, Nikolovska N, Spasovska S
- Country: Macedonia
Poster No. 50 (click to read as PDF)
- Title: Triple x syndrome associated with familial hyperlipoproteinemia (case presentation)
- Author(s): Anton DT, Rusu C, Astefanoaie R
- Country: Romania
Poster No. 51
- Title: Partial trisomy 10q in a boy due to a paternal translocation t(7,10)(q36;q25.2)
- Author(s): Militaru M, Popp R, Trifa A, Ormerod E
- Country: Romania
Poster No. 52
- Title: Intravaginal ananas comosus extract (ACE) for infertility due to seminal hyperviscosity
- Author(s): Abdelhafiz AT, Muhamad JA
- Country: Egypt
Poster No. 53
- Title: A mix of serotonin reuptake inhibitor and bee propolis (SRI/BP) for recurrent intractable candidal vulvovaginitis
- Author(s): Mohamed JA, Abdelhafiz AT
- Country: Egypt
Poster No. 54
- Title: Charcot neuro-osteoarthropathy in the diabetic foot - case report
- Author(s): Pandrc M, Misic T
- Country: Serbia
Poster No. 55 (click to read as PDF)
- Title: Sister Mary-Joseph nodule - a case report
- Author(s): Gorgulu A, Uzunali E
- Country: Turkey
Poster No. 56 (click to read as PDF)
- Title: Epitheloid hemangioendothelioma
- Author(s): Urun M, Gorgulu A, Erturk I, Yalcin O, Uzunali E
- Country: Turkey
Poster No. 57 (click to read as PDF)
- Title: Telangiectasia macularis eruptiva perstans
- Author(s): Gorgulu A, Uzunali E, Urun M
- Country: Turkey
Poster No. 58 (click to read as PDF)
- Title: Progressive facial hemiatrophy - a case report
- Author(s): Gorgulu A, Uzunali E, Erturk I
- Country: Turkey
Poster No. 59
- Title: Oral compound of Egyptian trifolium honey, bee bread and propolis for the treatment of dysesthetic vulvodenia
- Author(s): Abdelhafiz AT, Muhamad JA
- Country: Egypt
Poster No. 60
- Title: Anesthesia for patient with sialidosis (mucolipidosis type I). A case report
- Author(s): Omar N, Radev R, Bogdanov S
- Country: Bulgaria
Poster No. 61 (click to read as PDF)
- Title: Congenital disorder of glycosylation type IX - first case in Bulgaria
- Author(s): Stancheva M, Bozhinova V, Apostolova M, Jaeken J, Perenovska P, Kremenski I, Todorova D
- Country: Bulgaria
Poster No. 62 (click to read as PDF)
- Title: Multiple osteochondromas - with contribution for 19 Bulgarian families
- Author(s): Stancheva M, Sokolov T, Vladimirov B, Wuyts W, Kremenski I, Mihova A
- Country: Bulgaria
Poster No. 63 (click to read as PDF)
- Title: Two cases with familial tumoral calcinosis in Bulgaria
- Author(s): Sokolov T, Stancheva M, Mihova A, Perenovska P, Kremenski I
- Country: Bulgaria
Poster No. 64
- Title: Identification of pediatrics trimetylaminuria
- Author(s): Bajraktarevic A, Trninic S, Miokovic M, Putica S, Vukovic G, Majstorovic S, Saric J, Jatic Z
- Country: Bosnia and Herzegovina
Poster No. 65
- Title: Assessment metabolic diseases in liver at children
- Author(s): Bajraktarevic A, Trninic S, Miokovic M, Putica S, Vukovic G, Majstorovic S, Saric J, Jatic Z
- Country: Bosnia and Herzegovina
Poster No. 66 (click to read as PDF)
- Title: Lung metastases in neuroblastoma at initial diagnosis: a case report
- Author(s): Belcheva M, Hristozova H, Kaleva V
- Country: Bulgaria
Poster No. 67 (click to read as PDF)
- Title: Synchronous bilateral Wilms` tumor: a case report
- Author(s): Belcheva M, Kaleva V, Hristozova H
- Country: Bulgaria
Poster No. 68 (click to read as PDF)
- Title: Two cases of familial dyserythropoetic anemia
- Author(s): Kaleva V, Semova G, Peteva E, Belcheva M, Hristozova H, Racheva I, Valcheva E
- Country: Bulgaria
Poster No. 69 (click to read as PDF)
- Title: Molecular analysis of genetic disorders in Bulgaria
- Author(s): Todorova A
- Country: Bulgaria
Poster No. 70 (click to read as PDF)
- Title: Multiple serous, muscular and subcutaneous hemorrhages in a patient with hemophilia A
- Author(s): Kaleva V, Peteva E, Belcheva M, Hristozova H, Racheva I, Valcheva E, Semova G
- Country: Bulgaria
Poster No. 71
- Title: Sturge Weber syndrome - a case report
- Author(s): Hassoun H
- Country: Iraq
Poster No. 72 (click to read as PDF)
- Title: Romanian national alliances for rare diseases
- Author(s): Dan D
- Country: Romania
Poster No. 73 (click to read as PDF)
- Title: Analysis of the hprt1 gene in 31 Italian Lesch-Nyhan families: 38 patients and 71 potential female carriers
- Author(s): Lorenzetto E, de Gemmis P, Anesi L, Gioachini I, Zandona G, Fanin E, Dolcetta D, Andrighetto G, Parmigiani P, Hladnik U
- Country: Italy
Poster No. 74 (click to read as PDF)
- Title: Integrated approach to the Prader-Willi syndrome
- Author(s): Zandona G, Grolla E, de Gemmis P, Fanin E, Dolcetta D, Andrighetto G, Parmigiani P, Bernardelle R, Dal Lago M, Ferrari G, Albarello AM, Baschirotto G, Hladnik U
- Country: Italy
Poster No. 75 (click to read as PDF)
- Title: Elucidation of new binding partners of tuberous sclerosis (TSC) complex
- Author(s): Fortunati E, Dolcetta D, Hladnik U, de Gemmis P
- Country: Italy
Poster No. 76 (click to read as PDF)
- Title: International support: molecular diagnosis free of charge for five rare diseases
- Author(s): de Gemmis P, Zandona G, Fanin E, Anesi L, Gioachini I, Lorenzetto E, Andrighetto G, Parmigiani P, Fornasier G, Albarello AM, Baschirotto G, Hladnik U
- Country: Italy
Poster No. 77 (click to read as PDF)
- Title: Awareness about rare diseases among medical students in Bulgaria - preliminary results
- Author(s): Beleva E, Yordanova R, Arizankoski D, Pete M
- Country: Bulgaria
Poster No. 78
- Title: A novel mutation in nf1 gene in a boy with neurofibromatosis type 1 with optic glioma - a case report
- Author(s): Gug C, Milos N, Ioana M, De Boulle K, Willems P
- Country: Romania
Poster No. 79 (click to read as PDF)
- Title: Imformation centre for rare diseases and orphan drugs in Bulgaria
- Author(s): Yordanova R, Iskrov G, Stefanov R
- Country: Bulgaria
Poster No. 80 (click to read as PDF)
- Title: Ukrain (NSC 631570) is effective in the treatment of pancreatic cancer
- Author(s): Gagliano N, Karoly S, Nowicky A
- Country: Austria
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