TAHA, IBRAHIM A I
TAHA, IBRAHIM A I
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Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome
2022-01-01 Taha, Ibrahim; Foroni, Selena; Valli, Roberto; Frattini, Annalisa; Roccia, Pamela; Porta, Giovanni; Zecca, Marco; Bergami, Elena; Cipolli, Marco; Pasquali, Francesco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella
Genetic and Clinical Heterogeneity in Shwachman-Diamond Syndrome (SDS): Bioinformatic Analysis on Exome Sequencing for 16 SDS patients
2023-05-15 Taha, IBRAHIM A I
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
2022-01-01 Taha, I.; De Paoli, F.; Foroni, S.; Zucca, S.; Limongelli, I.; Cipolli, M.; Danesino, C.; Ramenghi, U.; Minelli, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome | 1-gen-2022 | Taha, Ibrahim; Foroni, Selena; Valli, Roberto; Frattini, Annalisa; Roccia, Pamela; Porta, Giovanni; Zecca, Marco; Bergami, Elena; Cipolli, Marco; Pasquali, Francesco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella | |
| Genetic and Clinical Heterogeneity in Shwachman-Diamond Syndrome (SDS): Bioinformatic Analysis on Exome Sequencing for 16 SDS patients | 15-mag-2023 | Taha, IBRAHIM A I | |
| Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene | 1-gen-2022 | Taha, I.; De Paoli, F.; Foroni, S.; Zucca, S.; Limongelli, I.; Cipolli, M.; Danesino, C.; Ramenghi, U.; Minelli, A. |