About: Marco Seri

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

researcher

Attributes	Values
rdf:type	Item
description	forskare (sv) researcher (en) 연구원 (ko) 研究者 (ja) araştırmacı (tr) дослідник (uk) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) hulumtues (sq) onderzoeker (nl)
rdfs:label	Marco Seri (en) Marco Seri (es) Marco Seri (it) Marco Seri (nl) Marco Seri (sl) Marco Seri (ast)
skos:prefLabel	Marco Seri (en) Marco Seri (es) Marco Seri (it) Marco Seri (nl) Marco Seri (sl) Marco Seri (ast)
name	Marco Seri (en) Marco Seri (es) Marco Seri (it) Marco Seri (nl) Marco Seri (sl) Marco Seri (ast)
Scopus author ID	wds:Q54494819-0B7088C9-1DBA-4681-BA9A-B718164BFA96
Scopus author ID	7005984572
given name	wds:Q54494819-4B96ED42-FFEA-4086-AB15-D951C5369022
given name	Marco
instance of	wds:Q54494819-089713E1-80C2-4D4E-A370-819DA9DC1C90
instance of	Homo sapiens
skos:altLabel	M Seri (en)
occupation	wds:Q54494819-B87ACDB9-C649-4E49-BCF1-81DCA81272AB
sex or gender	wds:Q54494819-78fd3d68-444d-e247-8169-345586f4ac41
on focus list of Wikimedia project	wds:Q54494819-F0BB804B-BCB1-49E1-A164-50AA546CF5C3
family name	wds:Q54494819-40554FA7-FEE5-4F38-A3FD-0504499BC177
occupation	researcher
sex or gender	male
on focus list of Wikimedia project	WikiProject COVID-19
family name	Seri
ORCID iD	wds:Q54494819-6331F332-4CD5-472B-83A9-15693AA38B3D
ORCID iD	https://orcid.org/0000-0003-2425-2176
ORCID iD	0000-0003-2425-2176
Iris-AperTO author ID	wds:Q54494819-9B42CBF7-D1B6-4AD1-A428-7E9C3FDB6FCD
Iris-AperTO author ID	73642
IRIS UNIBO author ID	wds:Q54494819-0822D836-E6EE-45B5-B69F-11C7D900EE35
IRIS UNIBO author ID	05401
IRIS UNIPV author ID	wds:Q54494819-DB954D0E-33B5-4BD1-B8B2-FFA92273562A
IRIS UNIPV author ID	145536
ResearcherID	wds:Q54494819-38EE105A-421A-4EF1-9B3B-2118CAA6CFDC
ResearcherID	A-4339-2014
Padua Research Archive author ID	wds:Q54494819-B12EC3B8-E2F4-44A9-84A9-7A96D8B1B5A3
Padua Research Archive author ID	63413
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q54494819
is author of	Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. EX-HOM (EXome HOMozygosity): a proof of principle Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness Inherited thrombocytopenias frequently diagnosed in adults A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24 Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome) MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Messenger RNA processing is altered in autosomal dominant leukodystrophy Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. ANKRD26-related thrombocytopenia and myeloid malignancies MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders Clinical and genetic characterization of Chanarin–Dorfman syndrome FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p Involvement of the HLXB9 homeobox gene in Currarino syndrome Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders EXCAVATOR: detecting copy number variants from whole-exome sequencing data Genetics of human enteric neuropathies. A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

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