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Maria Cristina Digilio

Showing results (21-30 of 232) with videos related to

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Developmental Medicine and Child Neurology|November 24, 2011
Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioningOrnella Piscitelli, Maria Cristina Digilio, Rossella Capolino, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 12, 2003
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxiaMaria Cristina Digilio, Bruno Marino, Aldo Giannotti, et al.
Journal of Medical Genetics|February 4, 2019
<i>H2AFY</i> promoter deletion causes <i>PITX1</i> endoactivation and Liebenberg syndromeBjørt K Kragesteen, Francesco Brancati, Maria Cristina Digilio, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
The Clinical Neuropsychologist|July 4, 2024
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature reviewMassimo Apicella, Andrea Battisti, Elisa Pisaneschi, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 6, 2003
Growth and pubertal growth spurt in dysmorphic syndromesMarco Cappa, Carla Bizzarri, Diego Colabianchi, et al.
Cardiology in the Young|May 20, 2022
Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal geneCarolina Putotto, Elio Caruso, Bruno Marino, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Gershoni-Baruch syndrome: First report of a surviving childLaura Valfrè, Anwar Baban, Maria Cristina Digilio, et al.
Clinical Dysmorphology|April 18, 2009
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndromeBruno Dallapiccola, Maria Cristina Digilio, Adriana Zatterale, et al.
Clinical Dysmorphology|January 31, 2014
Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvementPaola Sabrina Buonuomo, Marina Macchiaiolo, Paola Cambiaso, et al.
Pageof 24

Showing results (21-30 of 232) with videos related to

Sort By:
Pageof 24
Developmental Medicine and Child Neurology|November 24, 2011
Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioningOrnella Piscitelli, Maria Cristina Digilio, Rossella Capolino, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 12, 2003
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxiaMaria Cristina Digilio, Bruno Marino, Aldo Giannotti, et al.
Journal of Medical Genetics|February 4, 2019
<i>H2AFY</i> promoter deletion causes <i>PITX1</i> endoactivation and Liebenberg syndromeBjørt K Kragesteen, Francesco Brancati, Maria Cristina Digilio, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
The Clinical Neuropsychologist|July 4, 2024
First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature reviewMassimo Apicella, Andrea Battisti, Elisa Pisaneschi, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 6, 2003
Growth and pubertal growth spurt in dysmorphic syndromesMarco Cappa, Carla Bizzarri, Diego Colabianchi, et al.
Cardiology in the Young|May 20, 2022
Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal geneCarolina Putotto, Elio Caruso, Bruno Marino, et al.
American Journal of Medical Genetics. Part A|December 8, 2015
Gershoni-Baruch syndrome: First report of a surviving childLaura Valfrè, Anwar Baban, Maria Cristina Digilio, et al.
Clinical Dysmorphology|April 18, 2009
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndromeBruno Dallapiccola, Maria Cristina Digilio, Adriana Zatterale, et al.
Clinical Dysmorphology|January 31, 2014
Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvementPaola Sabrina Buonuomo, Marina Macchiaiolo, Paola Cambiaso, et al.
Pageof 24