Kalmár Tibor; Szakszon Katalin; Maróti Zoltán; Zimmermann Aliz; Máté Adrienn; Zombor Melinda; Bereczki Csaba; 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; 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)