TAHA, IBRAHIM A I
TAHA, IBRAHIM A I
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
Homozygous Pathogenic Variant in Elongation Factor‐Like 1 ( EFL1 ) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations
2026-01-01 Taha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al‐labadi, Liana; Obar, Rema; Beshtawi, Khaled R.; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa
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.
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect
2023-01-01 Foroni, S.; Taha, I.; Bezzerri, V.; Pintani, E.; Cipolli, M.; Danesino, C.; Mazza, T.; 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 | |
| Homozygous Pathogenic Variant in Elongation Factor‐Like 1 ( EFL1 ) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations | 1-gen-2026 | Taha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al‐labadi, Liana; Obar, Rema; Beshtawi, Khaled R.; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa | |
| 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. | |
| The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect | 1-gen-2023 | Foroni, S.; Taha, I.; Bezzerri, V.; Pintani, E.; Cipolli, M.; Danesino, C.; Mazza, T.; Minelli, A. |