 Print previewpersonal data approved: 2023. XII. 07. | Publications |
2023
 from data base, 2023. XII. 07. |
Morsy Heba, Benkirane Mehdi, Cali Elisa, Rocca Clarissa, Zhelcheska Kristina, Cipriani Valentina, Galanaki Evangelia, Maroofian Reza, Efthymiou Stephanie, Murphy David, O'Driscoll Mary, Suri Mohnish, Banka Siddharth, Clayton-Smith Jill, Wright Thomas, Redman Melody, Bassetti Jennifer A, Nizon Mathilde, Cogne Benjamin, Jamra Rami Abu, Bartolomaeus Tobias, Heruth Marion, Krey Ilona, Gburek-Augustat Janina, Wieczorek Dagmar, Gattermann Felix, Mcentagart Meriel, Goldenberg Alice, Guyant-Marechal Lucie, Garcia-Moreno Hector, Giunti Paola, Chabrol Brigitte, Bacrot Severine, Buissonnière Roger, Magry Virginie, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Melegh Béla, Szabó András, Sümegi Katalin, Cossée Mireille, Ziff Monica, Butterfield Russell, Hunt David, Bird-Lieberman Georgina, Hanna Michael, Koenig Michel, Stankewich Michael, Vandrovcova Jana, Houlden Henry, Ambrose J C, Arumugam P, Baple E L, Bleda M, Boardman-Pretty F, Boissiere J M, Boustred C R, Brittain H, Caulfield M J, Chan G C, Craig C E H, Daugherty L C, de Burca A, Devereau A, Elgar G, Foulger R E, Fowler T, Furió-Tarí P, Hackett J M, Halai D, Hamblin A, Henderson S, Holman J E, Hubbard T J P, Ibáñez K, Jackson R, Jones L J, Kasperaviciute D, Kayikci M, Lahnstein L, Lawson K, Leigh S E A, Leong I U S, Lopez F J, Maleady-Crowe F, Mason J, McDonagh E M, Moutsianas L, Mueller M, Murugaesu N, Need A C, Odhams C A, Patch C, Perez-Gil D, Polychronopoulos D, Pullinger J, Rahim T, Rendon A, Riesgo-Ferreiro P, Rogers T, Ryten M, Savage K, Sawant K, Scott R H, Siddiq A, Sieghart A, Smedley D, Smith K R, Sosinsky A, Spooner W, Stevens H E, Stuckey A, Sultana R, Thomas E R A, Thompson S R, Tregidgo C, Tucci A, Walsh E, Watters S A, Welland M J, Williams E, Witkowska K, Wood S M, Zarowiecki M: Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia, GENETICS IN MEDICINE 25: (1) pp. 76-89.
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number of independent citations: 1
language: English
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2023
from data base, 2023. XII. 07. |
Bánfai Zsolt, Kövesdi Erzsébet, Sümegi Katalin, Büki Gergely, Szabó András, Magyari Lili, Ádám Valerián, Pálos Ferenc, Miseta Attila, Kásler Miklós, Melegh Béla: Characterization of Danube Swabian population samples on a high-resolution genome-wide basis, BMC GENOMICS 24: (1) 9
type of document: Journal paper/Article
number of independent citations: 1
language: English
URL |
2023
from data base, 2023. XII. 07. |
Taruscio Domenica, Salvatore Marco, Lumaka Aimè, Carta Claudio, Cellai Laura L, Ferrari Gianluca, Sciascia Savino, Groft Stephen, Alanay Yasemin, Azam Maleeha, Baynam Gareth, Cederroth Helene, Cutiongco-de la Paz Eva Maria, Dissanayake Vajira Harshadeva Weerabaddana, Giugliani Roberto, Gonzaga-Jauregui Claudia, Hettiarachchi Dineshani, Kvlividze Oleg, Landoure Guida, Makay Prince, Melegh Béla, Ozbek Ugur, Puri Ratna Dua, Romero Vanessa, Scaria Vinod, Jamuar Saumya S, Shotelersuk Vorasuk, Roccatello Dario, Gahl William A, Wiafe Samuel A, Bodamer Olaf, Posada Manuel: Undiagnosed diseases : Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International, FRONTIERS IN PUBLIC HEALTH 11: 1079601
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language: English
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2020
from data base, 2023. XII. 07. |
Ádám Valerián, Bánfai Zsolt, Maász Anita, Sümegi Katalin, Miseta Attila, Melegh Béla: Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in Romania, JOURNAL OF HUMAN GENETICS 65: (12) pp. 1093-1103.
type of document: Journal paper/Article
number of independent citations: 1
language: English
URL |
2019
from data base, 2023. XII. 07. |
Schrauwen Isabelle, Melegh Béla I, Chakchouk Imen, Acharya Anushree, Nasir Abdul, Poston Alexis, Cornejo-Sanchez Diana M, Szabo Zsolt, Karosi Tamás, Bene Judit, Melegh Béla, Leal Suzanne M: Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma., EUROPEAN JOURNAL OF HUMAN GENETICS 27: (6) pp. 869-878.
type of document: Journal paper/Article
number of independent citations: 8
language: English
URL |
2016
from data base, 2023. XII. 07. |
Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, Tooley K, Presumey J, Baum M, Van Doren V, Genovese G, Rose SA, Handsaker RE, Daly MJ, Carroll MC, Stevens B, McCarroll SA, Bene J, Melegh B: Schizophrenia risk from complex variation of complement component 4., NATURE 530: (7589) pp. 177-183.
type of document:
number of independent citations: 1324
language: English
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2008
from data base, 2023. XII. 07. |
Faragó B, Magyari L, Sáfrány E, Csöngei V, Járomi L, Horvatovich K, Sipeky C, Maász A, Radics J, Gyetvai A, Szekanecz Z, Czirják L, Melegh B: Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis, ANNALS OF THE RHEUMATIC DISEASES 67: (2) pp. 248-250.
type of document: Journal paper/Article
number of independent citations: 101
language: English
URL |
2003
from data base, 2023. XII. 07. |
Szolnoki Z, Somogyvári F, Kondacs A, Szabó M, Fodor L, Bene J, Melegh B: Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke, JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY 74: (12) pp. 1615-1620.
type of document: Journal paper/Article
number of independent citations: 57
language: English
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2002
from data base, 2023. XII. 07. |
Vaz FM, Melegh B, Bene J, Cuebas D, Gage DA, Bootsma A, Vreken P, Van Genip AH, Bieber LL, Wanders RJ: Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tendem mass spectrometry, CLINICAL CHEMISTRY 48: pp. 826-834.
type of document: Journal paper/Article
number of independent citations: 26
language: English
URL |
1987
from data base, 2023. XII. 07. |
MELEGH B, KERNER J, BIEBER LL: PIVAMPICILLIN-PROMOTED EXCRETION OF PIVALOYLCARNITINE IN HUMANS, BIOCHEMICAL PHARMACOLOGY 36: (20) pp. 3405-3409.
type of document: Journal paper/Article
number of independent citations: 82
language: English
URL |
| | Number of independent citations to these publications: | 1601 |
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