Results
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Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients. [electronic resource] by
- Minelli, Antonella
- Nacci, Lucia
- Valli, Roberto
- Pietrocola, Giampiero
- Ramenghi, Ugo
- Locatelli, Franco
- Brescia, Letizia
- Nicolis, Elena
- Cipolli, Marco
- Danesino, Cesare
Producer: 20180216
In:
Blood cells, molecules & diseases vol. 60
Availability: No items available.
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Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. [electronic resource] by
- Morini, Jacopo
- Nacci, Lucia
- Babini, Gabriele
- Cesaro, Simone
- Valli, Roberto
- Ottolenghi, Andrea
- Nicolis, Elena
- Pintani, Emily
- Maserati, Emanuela
- Cipolli, Marco
- Danesino, Cesare
- Scotti, Claudia
- Minelli, Antonella
Producer: 20200504
In:
British journal of haematology vol. 185
Availability: No items available.
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Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. [electronic resource] by
- Nacci, Lucia
- Danesino, Cesare
- Sainati, Laura
- Longoni, Daniela
- Poli, Furio
- Cipolli, Marco
- Perobelli, Sandra
- Nicolis, Elena
- Cannioto, Zemira
- Morini, Jacopo
- Valli, Roberto
- Pasquali, Francesco
- Minelli, Antonella
Producer: 20140618
In:
British journal of haematology vol. 165
Availability: No items available.
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Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. [electronic resource] by
- Nacci, Lucia
- Valli, Roberto
- Maria Pinto, Rita
- Zecca, Marco
- Cipolli, Marco
- Morini, Jacopo
- Cesaro, Simone
- Boveri, Emanuela
- Rosti, Vittorio
- Corti, Paola
- Ambroni, Maura
- Pasquali, Francesco
- Danesino, Cesare
- Maserati, Emanuela
- Minelli, Antonella
Producer: 20170721
In:
Genes, chromosomes & cancer vol. 56
Availability: No items available.
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