Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Published in International journal of molecular sciences (25.05.2023)
Published in International journal of molecular sciences (25.05.2023)
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Journal Article
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
Onore, Maria Elena, Caiazza, Martina, Farina, Antonella, Scarano, Gioacchino, Budillon, Alberto, Borrelli, Rossella Nicoletta, Limongelli, Giuseppe, Nigro, Vincenzo, Piluso, Giulio
Published in Genes (01.01.2024)
Published in Genes (01.01.2024)
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Journal Article
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D'Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Published in Genes (14.07.2023)
Published in Genes (14.07.2023)
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Journal Article
Alu-Mediated Insertions in the IDMD/I Gene: A Difficult Puzzle to Interpret Clinically
Torella, Annalaura, Budillon, Alberto, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Picillo, Esther, Politano, Luisa, Nigro, Vincenzo, Piluso, Giulio
Published in International journal of molecular sciences (01.05.2023)
Published in International journal of molecular sciences (01.05.2023)
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Journal Article
An atypical Aymé‐Gripp phenotype detected by exome sequencing
Caiazza, Martina, Budillon, Alberto, Monda, Emanuele, Aruta, Giustina, Esposito, Augusto, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo, Scarano, Gioacchino, Limongelli, Giuseppe
Published in American journal of medical genetics. Part A (01.01.2024)
Published in American journal of medical genetics. Part A (01.01.2024)
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Journal Article
A Novel Homozygous Loss-of-Function Variant in ISPRED2/I Causes Autosomal Recessive Noonan-like Syndrome
Onore, Maria Elena, Caiazza, Ma, Farina, Antonella, Scarano, Gioacchino, Budillon, Alberto, Borrelli, Rossella Nicoletta, Limongelli, Giuseppe, Nigro, Vincenzo, Piluso, Giulio
Published in Genes (01.12.2023)
Published in Genes (01.12.2023)
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Journal Article
A Novel Homozygous IGPAA1/I Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Ma, D’Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Published in Genes (01.07.2023)
Published in Genes (01.07.2023)
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Journal Article
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
Onore, Maria Elena, Caiazza, Martina, Farina, Antonella, Scarano, Gioacchino, Budillon, Alberto, Borrelli, Rossella Nicoletta, Limongelli, Giuseppe, Nigro, Vincenzo, Piluso, Giulio
Published in Genes (25.12.2023)
Published in Genes (25.12.2023)
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A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D'Amico, Alessandra, Lonardo, tunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Published in Genes (14.07.2023)
Published in Genes (14.07.2023)
Get full text
Report