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American Journal of Medical Genetics. Part A|May 9, 2017
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphismMaria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
16p subtelomeric duplication: a clinically recognizable syndromeMaria Cristina Digilio, Laura Bernardini, Anna Capalbo, et al.
Clinical Genetics|April 5, 2017
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiencyMaria Lisa Dentici, Sabina Barresi, Marcello Niceta, et al.
American Journal of Medical Genetics. Part A|January 12, 2005
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresiaAnna Sarkozy, Emanuela Conti, Rita D'Agostino, et al.
Medicine|February 22, 2020
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature reviewDario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, et al.
International Journal of Cardiology|March 20, 2009
Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in manAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
European Journal of Human Genetics : EJHG|April 18, 2003
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 geneEmanuela Conti, Nicoletta Grifone, Anna Sarkozy, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
KBG syndrome in a cohort of Italian patientsFrancesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairsMaria Cristina Digilio, Laura Bernardini, Rita Mingarelli, et al.
American Journal of Medical Genetics. Part A|December 22, 2015
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndromeFrancesca Clementina Radio, Maria Cristina Digilio, Rossella Capolino, et al.
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