Items where Author is " Zimmermann Aliz"

Number of items: 8.

Szpisjak László and Salamon András and Németh Viola Luca and Szépfalusi Noémi and Maróti Zoltán and Kalmár Tibor and Zimmermann Aliz and Zádori Dénes and Klivényi Péter: Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE, 76 (1-2). pp. 63-72. ISSN 0019-1442 (2023)

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)

Nagy Dóra and Farkas Katali and Armengol Lluis and Segura Maria and Esi Zodanu Gloria Kafui and Csányi Bernadett and Zimmermann Aliz and Vámos Barbara and 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)

Kalmár Tibor and Maróti Zoltán and Zimmermann Aliz and 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 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)

Thiffault Isabelle and Wolf Nicole I. and Forget Diane and Sztriha László and Zimmermann Aliz and Máté Adrienn and Goizet Cyril and Fung Eva and Fribourg Sébastien and Vanderver Adeline and Simons Cas and Taft Ryan J. and Yates John R. and Coulombe Benoit and 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 and Máté Adrienn and Zimmermann Aliz and Rárosi Ferenc and 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 and Máté Adrienn and Róna-Vörös Krisztina and Gergev Gyurgyinka and Zimmermann Aliz and Nagy Nikoletta and Széll Márta and Vécsei László and Sztriha László and 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 2023. október 5. 02:06:39 CEST.