TAHA, IBRAHIM A I

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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.

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)
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.
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.