Suchergebnisse - "Pinto E Vairo, Filippo"

PubPharm (66)

1

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

enthalten in: BMC genomics | 2024

von Fadra, N. | Schultz-Rogers, L. | Chanana, P. | +9

2

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

enthalten in: BMC genomics | 2024

von Fadra, N. | Schultz-Rogers, L. | Chanana, P. | +9

3

Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis

enthalten in: Lung | 2024

von Alrehaili, G. | Kemppainen, J. | Kalra, S. | +6

4

Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis

enthalten in: Lung | 2024

von Alrehaili, G. | Kemppainen, J. | Kalra, S. | +6

5

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations

enthalten in: Journal of medical genetics | 2024

von Szakszon, K. | Lourenco, C. | Callewaert, B. | +44

6

IL-17 Signaling in Primary Sclerosing Cholangitis Patient-Derived Organoids

enthalten in: Research square | 2023

von Garcia Moreno, A. | Guicciardi, M. | Wixom, A. | +7

7

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

enthalten in: Molecular genetics and metabolism | 2023

von Goldstein, J. | McGlaughon, J. | Kanavy, D. | +24

8

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

enthalten in: bioRxiv.org | 2023

von Nmezi, B. | Bey, G. | Oranburg, T. | +30

9

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

enthalten in: bioRxiv : the preprint server for biology | 2023

von Nmezi, B. | Bey, G. | Oranburg, T. | +30

10

Implementation of genomic medicine for rare disease in a tertiary healthcare system : Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

enthalten in: Journal of translational medicine | 2023

von Pinto E Vairo, F. | Kemppainen, J. | Vitek, C. | +60

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