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	1.	A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient. [electronic resource] by Malerba, Natascia Towner, Shelley Keating, Katherine Squeo, Gabriella Maria Wilson, William Merla, Giuseppe Publication details: Frontiers in genetics 2018 In: Frontiers in genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene. [electronic resource] by Prontera, Paolo Rogaia, Daniela Sallicandro, Ester Mencarelli, Amedea Imperatore, Valentina Squeo, Gabriella Maria Merla, Giuseppe Elisei, Sandro Moretti-Ferreira, Danilo Esposito, Susanna Stangoni, Gabriela Producer: 20200615 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line. [electronic resource] by Malerba, Natascia Benzoni, Patrizia Squeo, Gabriella Maria Milanesi, Raffaella Giannetti, Federica Sadleir, Lynette G Poke, Gemma Augello, Bartolomeo Croce, Anna Irma Barbuti, Andrea Merla, Giuseppe Producer: 20200506 In: Stem cell research vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Dissecting KMT2D missense mutations in Kabuki syndrome patients. [electronic resource] by Cocciadiferro, Dario Augello, Bartolomeo De Nittis, Pasquelena Zhang, Jiyuan Mandriani, Barbara Malerba, Natascia Squeo, Gabriella M Romano, Alessandro Piccinni, Barbara Verri, Tiziano Micale, Lucia Pasqualucci, Laura Merla, Giuseppe Producer: 20190422 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. [electronic resource] by Pinelli, Michele Terrone, Gaetano Troglio, Flavia Squeo, Gabriella Maria Cappuccio, Gerarda Imperati, Floriana Pignataro, Piero Genesio, Rita Nitch, Lucio Del Giudice, Ennio Merla, Giuseppe Testa, Giuseppe Brunetti-Pierri, Nicola Producer: 20210604 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	TRIM50 regulates Beclin 1 proautophagic activity. [electronic resource] by Fusco, Carmela Mandriani, Barbara Di Rienzo, Martina Micale, Lucia Malerba, Natascia Cocciadiferro, Dario Sjøttem, Eva Augello, Bartolomeo Squeo, Gabriella Maria Pellico, Maria Teresa Jain, Ashish Johansen, Terje Fimia, Gian Maria Merla, Giuseppe Producer: 20180709 In: Biochimica et biophysica acta. Molecular cell research vol. 1865 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability. [electronic resource] by Venuto, Santina Monteonofrio, Laura Cozzolino, Flora Monti, Maria Appolloni, Irene Mazza, Tommaso Canetti, Diana Giambra, Vincenzo Panelli, Patrizio Fusco, Carmela Squeo, Gabriella Maria Croce, Anna Irma Pucci, Pietro Malatesta, Paolo Soddu, Silvia Merla, Giuseppe Micale, Lucia Producer: 20201005 In: Cancer letters vol. 473 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. [electronic resource] by Lepri, Francesca Romana Cocciadiferro, Dario Augello, Bartolomeo Alfieri, Paolo Pes, Valentina Vancini, Alessandra Caciolo, Cristina Squeo, Gabriella Maria Malerba, Natascia Adipietro, Iolanda Novelli, Antonio Sotgiu, Stefano Gherardi, Renzo Digilio, Maria Cristina Dallapiccola, Bruno Merla, Giuseppe Producer: 20180724 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Correction: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences. [electronic resource] by L'Abbate, Alberto Tolomeo, Doron Cifola, Ingrid Severgnini, Marco Turchiano, Antonella Augello, Bartolomeo Squeo, Gabriella D'Addabbo, Pietro Traversa, Debora Daniele, Giulia Lonoce, Angelo Pafundi, Mariella Carella, Massimo Palumbo, Orazio Dolnik, Anna Muehlematter, Dominique Schoumans, Jacqueline Van Roy, Nadine De Bellis, Gianluca Martinelli, Giovanni Merla, Giuseppe Bullinger, Lars Haferlach, Claudia Storlazzi, Clelia Tiziana Publication details: Leukemia 10 2018 In: Leukemia vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	DNA Methylation in the Diagnosis of Monogenic Diseases. [electronic resource] by Cerrato, Flavia Sparago, Angela Ariani, Francesca Brugnoletti, Fulvia Calzari, Luciano Coppedè, Fabio De Luca, Alessandro Gervasini, Cristina Giardina, Emiliano Gurrieri, Fiorella Lo Nigro, Cristiana Merla, Giuseppe Miozzo, Monica Russo, Silvia Sangiorgi, Eugenio Sirchia, Silvia M Squeo, Gabriella Maria Tabano, Silvia Tabolacci, Elisabetta Torrente, Isabella Genuardi, Maurizio Neri, Giovanni Riccio, Andrea Producer: 20210326 In: Genes vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences. [electronic resource] by L Abbate, Alberto Tolomeo, Doron Cifola, Ingrid Severgnini, Marco Turchiano, Antonella Augello, Bartolomeo Squeo, Gabriella D Addabbo, Pietro Traversa, Debora Daniele, Giulia Lonoce, Angelo Pafundi, Mariella Carella, Massimo Palumbo, Orazio Dolnik, Anna Muehlematter, Dominique Schoumans, Jacqueline Van Roy, Nadine De Bellis, Gianluca Martinelli, Giovanni Merla, Giuseppe Bullinger, Lars Haferlach, Claudia Storlazzi, Clelia Tiziana Producer: 20190613 In: Leukemia vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. [electronic resource] by Squeo, Gabriella Maria Augello, Bartolomeo Massa, Valentina Milani, Donatella Colombo, Elisa Adele Mazza, Tommaso Castellana, Stefano Piccione, Maria Maitz, Silvia Petracca, Antonio Prontera, Paolo Accadia, Maria Della Monica, Matteo Di Giacomo, Marilena Carmela Melis, Daniela Selicorni, Angelo Giglio, Sabrina Fischetto, Rita Di Fede, Elisabetta Malerba, Natascia Russo, Matteo Castori, Marco Gervasini, Cristina Merla, Giuseppe Producer: 20210708 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. [electronic resource] by Cuvertino, Sara Hartill, Verity Colyer, Alice Garner, Terence Nair, Nisha Al-Gazali, Lihadh Canham, Natalie Faundes, Victor Flinter, Frances Hertecant, Jozef Holder-Espinasse, Muriel Jackson, Brian Lynch, Sally Ann Nadat, Fatima Narasimhan, Vagheesh M Peckham, Michelle Sellers, Robert Seri, Marco Montanari, Francesca Southgate, Laura Squeo, Gabriella Maria Trembath, Richard van Heel, David Venuto, Santina Weisberg, Daniel Stals, Karen Ellard, Sian Barton, Anne Kimber, Susan J Sheridan, Eamonn Merla, Giuseppe Stevens, Adam Johnson, Colin A Banka, Siddharth Publication details: Genetics in medicine : official journal of the American College of Medical Genetics May 2020 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. [electronic resource] by Cuvertino, Sara Hartill, Verity Colyer, Alice Garner, Terence Nair, Nisha Al-Gazali, Lihadh Canham, Natalie Faundes, Victor Flinter, Frances Hertecant, Jozef Holder-Espinasse, Muriel Jackson, Brian Lynch, Sally Ann Nadat, Fatima Narasimhan, Vagheesh M Peckham, Michelle Sellers, Robert Seri, Marco Montanari, Francesca Southgate, Laura Squeo, Gabriella Maria Trembath, Richard van Heel, David Venuto, Santina Weisberg, Daniel Stals, Karen Ellard, Sian Barton, Anne Kimber, Susan J Sheridan, Eamonn Merla, Giuseppe Stevens, Adam Johnson, Colin A Banka, Siddharth Producer: 20210427 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)