Suchergebnisse - "De Marco, Patrizia"

PubPharm (136)

1

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Accogli, A. | Park, Y. | Lenk, G. | +19

2

Exercise-Induced Asthma : Managing Respiratory Issues in Athletes

enthalten in: Journal of functional morphology and kinesiology | 2024

von Ora, J. | De Marco, P. | Gabriele, M. | +2

3

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Bosch, E. | Popp, B. | Güse, E. | +69

4

Neuroblastoma Patients' Outcome and Chromosomal Instability

enthalten in: International journal of molecular sciences | 2023

von Ognibene, M. | De Marco, P. | Amoroso, L. | +4

5

Expanding the phenotype associated with biallelic SLC20A2 variants

enthalten in: European journal of human genetics : EJHG | 2023

von D'Onofrio, G. | Scala, M. | Severino, M. | +11

CommentOn: Acta Neurol Belg. 2023 Oct;123(5):1757-1761. - PMID 35881308

6

Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

enthalten in: bioRxiv.org | 2023

von Bosch, E. | Popp, B. | Güse, E. | +69

7

Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis

enthalten in: Cancers | 2023

von Ognibene, M. | De Marco, P. | Amoroso, L. | +4

8

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients : The Role of Rare Variants of RNF213

enthalten in: Cancers | 2023

von Ognibene, M. | Scala, M. | Iacomino, M. | +18

9

Natural history of familial cerebral cavernous malformation syndrome in children : a multicenter cohort study

enthalten in: Neuroradiology | 2023

von Geraldo, A. | Alves, C. | Luis, A. | +13

10

Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report

enthalten in: Frontiers in pediatrics | 2023

von Montalto, S. | Di Filippo, M. | Capra, V. | +6

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