Items where Author is " Zombor Melinda"

Kalmár Tibor and Szakszon Katalin and Maróti Zoltán and Zimmermann Aliz and Máté Adrienn and Zombor Melinda and Bereczki Csaba and Sztriha László: A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
JOURNAL OF PEDIATRIC GENETICS, 10 (2). pp. 159-163. ISSN 2146-4596 (2021)

Zombor Melinda and Kalmár Tibor and Nagy Nikoletta and Berényi Marianne and Telcs Borbála and Maróti Zoltán and Brandau Oliver and 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 and Kalmár Tibor and Maróti Zoltán and Zimmermann Aliz and Máté Adrienn and Bereczki Csaba and 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 and Timms Andrew E. and Gripp Karen and Baker Laura and Park Kaylee and Sztriha László and Zombor Melinda and Caluseriu Oana and Mesterman Ronit and Van Allen Margot I. and Jacquinet Adeline and Ygberg Sofia and Bernstein Jonathan A. and Wenger Aaron M. and 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 and Zombor Melinda and Máté Adrienn and Sztriha László and 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 and Piquand Kevin and Huber Céline and Megarbané André and Ichkou Amale and Legendre Marine and Pelluard Fanny and Encha-Ravazi Ferechté and Abi-Tayeh Georges and Bessiéres Bettina and El Chehadeh-Djebbar Salima and Laurent Nicole and Faivre Laurence and Sztriha László and Zombor Melinda and Szabó Hajnalka and 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 and Russignan Anna and Zombor Melinda and Bereczki Csaba and Zappini Francesca and Buono Romina and Bax Bridget E. and Padovani Alessandro and Tonin Paola and 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)