Items where Author is "Zombor, Melinda"

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Number of items: 6.

Zombor, Melinda, Kalmár, Tibor, Nagy, Nikoletta, Berényi, Marianne, Telcs, Borbála, Maróti, Zoltán, Brandau, Oliver, Sztriha, László: A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
JOURNAL OF APPLIED GENETICS, 60 (2). pp. 151-162. ISSN 1234-1983 (2019)

Zombor, Melinda, Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Aliz, Máté, Adrienn, Bereczki, Csaba, Sztriha, László: Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
JOURNAL OF HUMAN GENETICS, 63 (11). pp. 1189-1193. ISSN 1434-5161 (2018)

Alcantara, Diana, Timms, Andrew E., Gripp, Karen, Baker, Laura, Park, Kaylee, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I., Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A., Wenger, Aaron M., Guturu, Harendra: Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
BRAIN, 140 (10). pp. 2610-2622. ISSN 0006-8950 (2017)

Carter, Jennifer, Zombor, Melinda, Máté, Adrienn, Sztriha, László, Waters, Jonathan J.: De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
CASE REPORTS IN GENETICS, 2016. Azonosító: 2501741-Terjedelem: 3. p.. ISSN 2090-6544 (2016)

Alby, Caroline, Piquand, Kevin, Huber, Céline, Megarbané, André, Ichkou, Amale, Legendre, Marine, Pelluard, Fanny, Encha-Ravazi, Ferechté, Abi-Tayeh, Georges, Bessiéres, Bettina, El Chehadeh-Djebbar, Salima, Laurent, Nicole, Faivre, Laurence, Sztriha, László, Zombor, Melinda, Szabó, Hajnalka, et., al.: Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS, 97 (2). pp. 311-318. ISSN 0002-9297 (2015)

Scarpelli, Mauro, Russignan, Anna, Zombor, Melinda, Bereczki, Csaba, Zappini, Francesca, Buono, Romina, Bax, Bridget E., Padovani, Alessandro, Tonin, Paola, Filosto, Massimiliano: Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: The need for early diagnosis.
CASE REPORTS IN NEUROLOGY, 4 (3). pp. 248-253. ISSN 1662-680X (2012)

This list was generated on 2020. szeptember 28. 20:59:08 CEST.