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/vufind/Search/Results?lookfor=%22Pinto+e+Vairo%2C+Filippo%22&type=Person&sort=year
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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
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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
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3
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis
enthalten in:
Lung
| 2024
von
Alrehaili, G.
|
Kemppainen, J.
|
Kalra, S.
| +6
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4
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis
enthalten in:
Lung
| 2024
von
Alrehaili, G.
|
Kemppainen, J.
|
Kalra, S.
| +6
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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
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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
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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
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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
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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
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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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Zeitschriftentitel
4
Journal of clinical immunology
3
American journal of human genetics
3
American journal of medical genetics. Part A
3
BMC medical genetics
3
BMC nephrology
3
Genetics in medicine : official journal of the ...
3
Journal of translational medicine
3
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2
Acta Neuropathologica Communications
2
American Journal of Medical Genetics Part C: Se...
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2
Molecular genetics & genomic medicine
2
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2
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The American journal of human genetics
1
Acta neuropathologica communications
1
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1
BMC rheumatology
1
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Thema
32
Journal Article
22
Research Support, Non-U.S. Gov't
13
Case Reports
12
Research Support, N.I.H., Extramural
7
Individualized medicine
5
Letter
4
Genomics
4
Transcription Factors
3
Adult-onset Alexander disease
3
Alternative transcripts
3
Autism
3
Cutis aplasia
3
Editorial
3
Exome sequencing
3
Fabry disease
3
GFAP
3
Genetic counseling
3
Macrocephaly
3
Microcephaly
3
Nail-patella-like renal disease
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Erscheinungszeitraum
53
2020-
13
2010-2019
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