Items where Author is "Máté, Adrienn"

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Number of items: 7.

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. Terjedelem: 5-Azonosító:. ISSN 2146-4596 (2020)

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)

Máté, Adrienn, Kis, Dávid, Czigner, Andrea, Fischer, Tamás, Halász, László, Barzó, Pál: Connectivity-based segmentation of the brainstem by probabilistic tractography.
BRAIN RESEARCH, 1690. pp. 74-88. ISSN 0006-8993 (2018)

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)

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)

This list was generated on 2021. január 21. 13:38:39 CET.