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	1.	NSD1 mutations in Sotos syndrome. [electronic resource] by Faravelli, Francesca Producer: 20050928 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 137C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia. [electronic resource] by Menzies, Lara Cullup, Tom Calder, Alistair Wilson, Louise Faravelli, Francesca Producer: 20200204 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? [electronic resource] by D'Arrigo, Stefano Grazia, Bruzzone Maria Faravelli, Francesca Riva, Daria Pantaleoni, Chiara Producer: 20050804 In: Journal of child neurology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Oligoyric microcephaly in a child with Williams syndrome. [electronic resource] by Faravelli, Francesca D'Arrigo, Stefano Bagnasco, Irene Selicorni, Angelo D'Incerti, Ludovico Riva, Daria Pantaleoni, Chiara Producer: 20030807 In: American journal of medical genetics. Part A vol. 117A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. [electronic resource] by Viassolo, Valeria Lituania, Mario Marasini, Maurizio Dietz, Harry Benelli, Fabrizio Forzano, Francesca Faravelli, Francesca Producer: 20070227 In: Prenatal diagnosis vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. [electronic resource] by Faravelli, Francesca Murdolo, Marina Marangi, Giuseppe Bricarelli, Franca Dagna Di Rocco, Maja Zollino, Marcella Producer: 20070803 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? [electronic resource] by Yeghiazaryan, Nune S Striano, Pasquale Accorsi, Patrizia Pinelli, Lorenzo Faravelli, Francesca Zara, Federico Minetti, Carlo Giordano, Lucio Producer: 20110222 In: Movement disorders : official journal of the Movement Disorder Society vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment. [electronic resource] by Cocchella, Alessandro Malacarne, Michela Forzano, Francesca Marciano, Carmela Pierluigi, Mauro Perroni, Lucia Faravelli, Francesca Di Maria, Emilio Producer: 20110113 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 153B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis? [electronic resource] by Cinotti, Elisa Ferrero, Giulio Paparo, Francesco Papadia, Marina Faravelli, Francesca Rongioletti, Franco Traverso, Carlo Di Maria, Emilio Producer: 20160415 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. [electronic resource] by Ferrero, Giovanni Battista Belligni, Elga Sorasio, Lorena Delmonaco, Angelo Giovanni Oggero, Roberto Faravelli, Francesca Pierluigi, Mauro Silengo, Margherita Producer: 20090415 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype. [electronic resource] by Grasso, Marina Cecconi, Massimiliano Boni, Stefania Forzano, Francesca Barbaresi, Maurizio Memo, Luigi Perroni, Lucia Faravelli, Francesca Di Maria, Emilio Producer: 20100719 In: Molecular and cellular probes vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. [electronic resource] by Accorsi, Patrizia Giordano, Lucio Uliana, Vera Forzano, Francesca Pinelli, Lorenzo Olioso, Giovanna Zenker, Martin Di Maria, Emilio Faravelli, Francesca Producer: 20120709 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. [electronic resource] by Della Monica, Matteo Lonardo, Fortunato Faravelli, Francesca Pierluigi, Mauro Luquetti, Daniela Varela De Gregori, Manuela Zuffardi, Orsetta Scarano, Gioacchino Producer: 20080107 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Growth hormone, gender and face shape in Prader-Willi syndrome. [electronic resource] by de Souza, Mauren Abreu McAllister, Catherine Suttie, Michael Perrotta, Concetta Mattina, Teresa Faravelli, Francesca Forzano, Francesca Holland, Anthony Hammond, Peter Producer: 20140515 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. [electronic resource] by Zollino, Marcella Lecce, Rosetta Fischetto, Rita Murdolo, Marina Faravelli, Francesca Selicorni, Angelo Buttè, Cinzia Memo, Luigi Capovilla, Giuseppe Neri, Giovanni Producer: 20030424 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. [electronic resource] by Cecconi, Massimiliano Forzano, Francesca Garavelli, Livia Pantaleoni, Chiara Grasso, Marina Dagna Bricarelli, Franca Perroni, Lucia Di Maria, Emilio Faravelli, Francesca Producer: 20081212 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype. [electronic resource] by Cecconi, Massimiliano Forzano, Francesca Rinaldi, Rosanna Cappellacci, Sandra Grammatico, Paola Faravelli, Francesca Dagna Bricarelli, Franca Di Maria, Emilio Grasso, Marina Producer: 20080701 In: The Journal of molecular diagnostics : JMD vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Setleis syndrome: genetic and clinical findings in a new case with epilepsy. [electronic resource] by Giordano, Lucio Desnick, Robert J Molinaro, Anna Uliana, Vera Forzano, Francesca Edelmann, Lisa Nazarenko, Irene Pinelli, Lorenzo Accorsi, Patrizia Faravelli, Francesca Producer: 20150129 In: Pediatric neurology vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. [electronic resource] by Chandler, Natalie Best, Sunayna Hayward, Jane Faravelli, Francesca Mansour, Sahar Kivuva, Emma Tapon, Dagmar Male, Alison DeVile, Catherine Chitty, Lyn S Producer: 20190213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability. [electronic resource] by Belligni, Elga F Biamino, Elisa Molinatto, Cristina Messa, Jole Pierluigi, Mauro Faravelli, Francesca Zuffardi, Orsetta Ferrero, Giovanni B Silengo, Margherita Cirillo Producer: 20121002 In: Italian journal of pediatrics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 60 results.