Items where Author is "Sztriha, László"

Up a level
Export as [feed] RSS 1.0 [feed] RSS 2.0
Number of items: 15.

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)

Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Aliz, Sztriha, László: Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
BRAIN & DEVELOPMENT, 43 (1). pp. 144-151. ISSN 0387-7604 (2020)

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)

Kodani, Andrew, Yu, Timothy W., Johnson, Jeffrey R., Jayaraman, Divya, Johnson, Tasha L., Al-Gazali, Lihadh, Sztriha, László, Partlow, Jennifer N., Kim, Hanjun, Krup, Alexis L., Dammermann, Alexander, Krogan, Nevan J., Walsh, Christopher A., Reiter, Jeremy F.: Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
ELIFE, 4. Terjedelem: 27 p.-Azonosító: e07519. ISSN 2050-084X (2015)

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)

Gajda, Anna, Ferdinandyné Horváth, Emese, Hortobágyi, Tibor, Gergev, Gyurgyinka, Szabó, Hajnalka, Farkas, Katalin, Nagy, Nikoletta, Széll, Márta, Sztriha, László: Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene.
Journal of Child Neurology, 30 (5). pp. 627-630. ISSN 0883-0738 (2015)

Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Sztriha, László, Zimmermann, Aliz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates, John R., Coulombe, Benoit, Bernard, Genèvive: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
NATURE COMMUNICATIONS, 6. Terjedelem: 9 p. -Azonosító: 7623. ISSN 2041-1723 (2015)

Gergev, Gyurgyinka, Máté, Adrienn, Zimmermann, Aliz, Rárosi, Ferenc, Sztriha, László: Spectrum of neurodevelopmental disabilities: a cohort study in Hungary.
JOURNAL OF CHILD NEUROLOGY, 30 (3). pp. 344-356. ISSN 0883-0738 (2015)

Zádori, Dénes, Máté, Adrienn, Róna-Vörös, Krisztina, Gergev, Gyurgyinka, Zimmermann, Aliz, Nagy, Nikoletta, Széll, Márta, Vécsei, László, Sztriha, László, Klivényi, Péter: The clinical manifestations of two novel SPAST mutations.
CLINICAL NEUROLOGY AND NEUROSURGERY, 136. pp. 82-85. ISSN 0303-8467 (2015)

Ferdinandyné Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke: Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.
Molecular Cytogenetics, 6 (1). Azonosító: 35-Terjedelem: 5 p.. ISSN 1755-8166 (2013)

Szabó, Nóra, Gergev, Gyurgyinka, Kóbor, Jenő Dezső, Bereg, Edit, Túri, Sándor, Sztriha, László: Corpus Callosum Anomalies: Birth Prevalence and Clinical Spectrum in Hungary.
Pediatric Neurology, 44 (6). pp. 420-426. ISSN 0887-8994 (2011)

Szabó, Nóra, Gergev, Gyurgyinka, Kóbor, Jenő Dezső, Szűcs, Péter, Túri, Sándor, Sztriha, László: Holoprosencephaly in Hungary: Birth Prevalence and Clinical Spectrum.
Journal of Child Neurology, 26 (8). pp. 1029-1032. ISSN 0883-0738 (2011)

This list was generated on 2021. december 9. 01:50:23 CET.