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European Journal of Human Genetics : EJHG|November 1, 2007
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boyElisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, et al.
BMC Medical Genetics|March 9, 2012
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitroElisabetta Tabolacci, Filomena Pirozzi, Baltazar Gomez-Mancilla, et al.
American Journal of Medical Genetics. Part A|October 15, 2016
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issueAlessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, et al.
Social Psychiatry and Psychiatric Epidemiology|May 11, 2004
Quality of life in patients with schizophrenia--comparison of self-report and proxy assessmentsAngela Becchi, Paola Rucci, Anna Placentino, et al.
Sensors (Basel, Switzerland)|August 8, 2019
Monitoring of Chemical Risk Factors for Sudden Infant Death Syndrome (SIDS) by Hydroxyapatite-Graphene-MWCNT Composite-Based SensorsNarayanan Sudhan, Nehru Lavanya, Salvatore Gianluca Leonardi, et al.
Chemosphere|February 12, 2024
Lavandula multifida as a novel eco-friendly fluorescent-blue material for mercury ions sensing in seawater at femto-molar concentrationMeryam Chelly, Sabrine Chelly, Angelo Ferlazzo, et al.
Clinical Dysmorphology|December 10, 2009
'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)Louise Harewood, Jean W Keeling, Judith A Fantes, et al.
American Journal of Medical Genetics. Part A|April 27, 2004
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hairKlaus W Kjaer, Lars Hansen, Hans Eiberg, et al.
American Journal of Medical Genetics. Part A|July 29, 2003
Splenogonadal fusion-limb defect "syndrome" and associated malformationsFiona McPherson, Jaime L Frias, Diane Spicer, et al.
Fetal and Pediatric Pathology|January 7, 2006
Prenatal death in Fraser syndromeJessica M Comstock, Angelica R Putnam, John M Opitz, et al.
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