Suchergebnisse - "Pál, Margit"

PubPharm (49)

1

Beyond C9orf72 : repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

enthalten in: BMC medical genomics | 2024

von Nagy, Z. | Pál, M. | Engelhardt, J. | +3

2

Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

enthalten in: BMC medical genomics | 2024

von Nagy, Z. | Pál, M. | Engelhardt, J. | +3

3

Missing Heritability in Albinism : Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease

enthalten in: International journal of molecular sciences | 2024

von Nagy, N. | Pal, M. | Kun, J. | +14

4

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

enthalten in: BMC pediatrics | 2024

von Nagy, N. | Pál, M. | Nagy, D. | +7

5

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

enthalten in: BMC pediatrics | 2024

von Nagy, N. | Pál, M. | Nagy, D. | +7

6

Diagnosis of MECP2 duplication in a child and prenatally

enthalten in: Orvosi hetilap | 2024

von Bokor, B. | Török, D. | Horváth, E. | +4

7

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants

enthalten in: International journal of molecular sciences | 2023

von Salamon, A. | Nagy, Z. | Pál, M. | +7

8

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

enthalten in: Current issues in molecular biology | 2023

von Pál, M. | Vetró, �. | Nagy, N. | +8

9

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

enthalten in: International journal of molecular sciences | 2023

von Pál, M. | Nagy, D. | Neller, A. | +10

10

Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways

enthalten in: Biomedicines | 2023

von Nagy, Z. | Sonkodi, B. | Pál, M. | +2

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