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1 . Academic Journal
DNA methylation patterns of transcription factor binding regions characterize their functional and evolutionary contexts
저자
by
Martina Rimoldi
;
Ning Wang
;
Jilin Zhang
;
Diego Villar
;
Duncan T. Odom
, et al.
소스
Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
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7 . Academic Journal
Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?
저자
by
Elena Abati
;
Eleonora Mauri
;
Martina Rimoldi
;
Barbara Madini
;
Francesca Patria
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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7 . Academic Journal
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
저자
by
Daniela Piga
;
Martina Rimoldi
;
Francesca Magri
;
Simona Zanotti
;
Laura Napoli
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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7 . Academic Journal
Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
저자
by
Martina Rimoldi
;
Gloria Romagnoli
;
Francesca Magri
;
Sara Antognozzi
;
Claudia Cinnante
, et al.
소스
Frontiers in Neurology, Vol 14 (2024)
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7 . Academic Journal
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
저자
by
Martina Rimoldi
;
Francesca Magri
;
Sara Antognozzi
;
Michela Ripolone
;
Sabrina Salani
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy
저자
by
Daniele Velardo
;
Sara Antognozzi
;
Martina Rimoldi
;
Serena Pagliarani
;
Filippo Cogiamanian
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Lafora Disease: A Case Report and Evolving Treatment Advancements
저자
by
Carola Rita Ferrari Aggradi
;
Martina Rimoldi
;
Gloria Romagnoli
;
Daniele Velardo
;
Megi Meneri
, et al.
소스
Brain Sciences, Vol 13, Iss 12, p 1679 (2023)
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7 . Academic Journal
Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2
저자
by
Sara Di Rado
;
Roberta Giansante
;
Michela Cicirelli
;
Lucrezia Pilenzi
;
Anastasia Dell’Elice
, et al.
소스
Cancers, Vol 15, Iss 24, p 5730 (2023)
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7 .
Chung–
Jansen
syndrome can mimic
Cornelia de Lange
syndrome: Another player among chromatinopathies?
저자
by
Beatrice Conti
;
Berardo Rinaldi
;
Martina Rimoldi
;
Roberta Villa
;
Maria Iascone
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1586-1592
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7 .
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
저자
by
Martina Rimoldi
;
Berardo Rinaldi
;
Roberta Villa
;
Jacopo Cerasani
;
Benedetta Beltrami
, et al.
소스
American Journal of Medical Genetics Part A
. 191:605-611
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