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Zara, Federico
731  results:
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1

Generation of two iPSC lines from Mowat-Wilson syndrome pat..:

Gorrieri, Giulia ; Tamburro, Serena ; Baldassari, Simona...
Stem Cell Research.  76 (2024)  - p. 103333 , 2024
Link: https://doi.org/10.1016/..
 
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2

DAG1 haploinsufficiency is associated with sporadic and fam..:

Traverso, Monica ; Baratto, Serena ; Iacomino, Michele...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain.  147 (2024)  5 - p. 1822-1836 , 2024
Link: https://doi.org/10.1093/..
 
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4

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine.  26 (2024)  4 - p. 101057 , 2024
Link: https://doi.org/10.1016/..
 
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5

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics.  111 (2024)  1 - p. 200-210 , 2024
Link: https://doi.org/10.1016/..
 
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6

Generation of IGGi003-A induced pluripotent stem cell line ..:

Conteduca, Giuseppina ; Baldo, Chiara ; Arado, Alessia...
Stem Cell Research.  76 (2024)  - p. 103324 , 2024
Link: https://doi.org/10.1016/..
 
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7

Overexpression of H2AFX gene in neuroblastoma is associated..:

Ognibene, Marzia ; Parodi, Stefano ; Amoroso, Loredana..
Pediatric Blood & Cancer.  , 2024
Link: https://doi.org/10.1002/..
 
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8

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1206-1221 , 2024
Link: https://doi.org/10.1016/..
 
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9

Clinical features and genotype–phenotype correlations in ep..:

Cuccurullo, Claudia ; Cerulli Irelli, Emanuele ; Ugga, Lorenzo...
Epilepsia.  , 2024
Link: https://doi.org/10.1111/..
 
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10

Expanding the phenotype of UPF3B‐related disorder: Case rep..:

Romano, Ferruccio ; Haanpää, Maria K. ; Pomianowski, Pawel...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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11

Corrigendum to "Dramatic effect of levetiracetam in early-o..:

Dilena, Robertino ; Striano, Pasquale ; Traverso, Monica...
Brain and Development.  46 (2024)  2 - p. 124 , 2024
Link: https://doi.org/10.1016/..
 
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12

Microbes identified from monitoring cell manipulations in 5..:

Morandi, Fabio ; Della Lastra, Martina ; Bandettini, Roberto...
Regenerative Therapy.  27 (2024)  - p. 234-243 , 2024
Link: https://doi.org/10.1016/..
 
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13

Validation of analytical methods for the production of expa..:

Morandi, Fabio ; Della Lastra, Martina ; Zara, Federico.
Current Research in Translational Medicine.  72 (2024)  4 - p. 103445 , 2024
Link: https://doi.org/10.1016/..
 
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14

Novel causative variants in Legius syndrome: SPRED1 Genotyp..:

Chelleri, Cristina ; Brolatti, Noemi ; De Marco, Patrizia...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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15

Novel biallelic variants expand the phenotype of NAA20‐rela..:

D'Onofrio, Gianluca ; Cuccurullo, Claudia ; Larsen, Silje Kathrine...
Clinical Genetics.  104 (2023)  3 - p. 371-376 , 2023
Link: https://doi.org/10.1111/..
 
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