CNR Institutional Research Information System

SOBACCHI, CRISTINA
 Distribuzione geografica
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Continente #
AS - Asia 13
EU - Europa 7
NA - Nord America 1
Totale 21
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Nazione #
KR - Corea 8
IT - Italia 7
CN - Cina 4
SG - Singapore 1
US - Stati Uniti d'America 1
Totale 21
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Città #
Seoul 8
Pisa 5
Guangzhou 4
Milan 2
Forest City 1
Singapore 1
Totale 21
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Nome #
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 5
Fingerprint multiplex CARS at high speed based on supercontinuum generation in bulk media and deep learning spectral denoising 4
The RANKL-RANK axis: A bone to thymus round trip 3
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene 3
A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient. 2
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications 2
2.Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. 1
Label-free multimodal nonlinear optical microscopy reveals features of bone composition in pathophysiological conditions 1
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. 1
Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis 1
Rescue of ATPa-3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in Utero 1
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. 1
Defect of regulatory T cells in patients with Omenn syndrome. 1
Bone Marrow Niches and Tumour Cells: Lights and Shadows of a Mutual Relationship 1
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects 1
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. 1
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 1
Totale 30
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Categoria #
all - tutte 616
article - articoli 616
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 1.232
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202429 0 0 0 0 0 0 0 0 4 3 18 4
2024/20251 1 0 0 0 0 0 0 0 0 0 0 0
Totale 30