Items where Author is "Zimmermann, Aliz"

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Number of items: 5.

Nagy, Dóra, Farkas, Katali, Armengol, Lluis, Segura, Maria, Esi Zodanu, Gloria Kafui, Csányi, Bernadett, Zimmermann, Aliz, Vámos, Barbara, Széll, Márta: Further delineation of the phenotype of PAK3-associated x-linked intellectual disability : Identification of a novel missense mutation and review of literature.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 63 (4). Azonosító: 103800-Terjedelem: 5 p. ISSN 1769-7212 (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)

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 2020. szeptember 28. 21:51:08 CEST.