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Tudp
Tudp
Biology
Short stature
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3
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6
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Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
2022
European Journal of Medical Genetics
Serena Troisi
Silvia Maitz
Mariasavina Severino
Alice Spano
Gerarda Cappuccio
Nicola Brunetti-Pierri
Annalaura Torella
Vincenzo Nigro
Tudp
Leonilda Bilo
Antonietta Coppola
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Expansion of the phenotype of lateral meningocele syndrome
2020
American Journal of Medical Genetics Part A
Gerarda Cappuccio
Diletta Apuzzo
Marianna Alagia
Annalaura Torella
Michele Pinelli
Brunella Franco
Bruno Corrado
Ennio Del Giudice
Alessandra D’Amico
Vincenzo Nigro
Nicola Brunetti-Pierri
Tudp
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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
2019
Molecular Genetics & Genomic Medicine
Gerarda Cappuccio
Raffaella Brunetti-Pierri
Annalaura Torella
Michele Pinelli
Raffaele Castello
Giorgio Casari
Vincenzo Nigro
Sandro Banfi
Francesca Simonelli
Nicola Brunetti-Pierri
Tudp
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Citations (3)
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