Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same familyNAOUMOVA, Rossitza P; NEUWIRTH, Clare; POTTINGER, Bruce et al.Atherosclerosis. 2004, Vol 174, Num 1, pp 67-71, issn 0021-9150, 5 p.Article

Improved genetic testing for monogenic diabetes using targeted next-generation sequencingELLARD, S; LANGO ALLEN, H; CASWELL, R et al.Diabetologia (Berlin). 2013, Vol 56, Num 9, pp 1958-1963, issn 0012-186X, 6 p.Article

Molecular characterization of familial hypercholesterolemia in SpainPALACIOS, Lourdes; GRANDOSO, Laura; CUEVAS, Nerea et al.Atherosclerosis. 2012, Vol 221, Num 1, pp 137-142, issn 0021-9150, 6 p.Article

Preimplantation genetic diagnosis and 'savior siblings'DICKENS, B. M.International journal of gynaecology and obstetrics. 2005, Vol 88, Num 1, pp 91-96, issn 0020-7292, 6 p.Article

Progress in the Molecular Genetics of Hypertrophic Cardiomyopathy: A Mini-ReviewTAO TIAN; YAXIN LIU; XIANLIANG ZHOU et al.Gerontology (Basel). 2013, Vol 59, Num 3, pp 199-205, issn 0304-324X, 7 p.Article

One-step nucleic acid amplification for detecting lymph node metastasis of head and neck squamous cell carcinomaGODA, Hiroyuki; NAKASHIRO, Koh-Ichi; OKA, Ryota et al.Oral oncology (1997). 2012, Vol 48, Num 10, pp 958-963, issn 1368-8375, 6 p.Article

Genetic testing in neurological diseasesBISKUP, Saskia; GASSER, Thomas.Journal of neurology. 2012, Vol 259, Num 6, pp 1249-1254, issn 0340-5354, 6 p.Article

Infant hearing loss: from diagnosis to therapy: Official Report of XXI Conference of Italian Society of Pediatric OtorhinolaryngologyPALUDETTI, G; CONTI, G; DI NARDO, W et al.Acta otorhinolaryngologica italica (Testo stampato). 2012, Vol 32, Num 6, pp 347-370, issn 0392-100X, 24 p.Article

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutationsCHEN, Dong-Hui; RASKIND, Wendy H; PARSON, William W et al.Journal of the neurological sciences. 2010, Vol 296, Num 1-2, pp 22-29, issn 0022-510X, 8 p.Article

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire familyGARCIA-GARCIA, Ana-Barbara; IVORRA, Carmen; MARTINEZ-HERVAS, Sergio et al.Atherosclerosis. 2011, Vol 218, Num 2, pp 423-430, issn 0021-9150, 8 p.Article

Predictive Value of Cancer Stem-Like Cells and Cancer-Associated Genetic Markers for Peritoneal Recurrence of Colorectal Cancer in Patients after Curative SurgeryNAKAMURA, Keisuke; LINUMA, Hisae; AOYAGI, Yoshiko et al.Oncology. 2010, Vol 78, Num 5-6, pp 309-315, issn 0030-2414, 7 p.Article

Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening programBALS, Robert; KOCZULLA, Rembert; KOTKE, Viktor et al.Respiratory medicine. 2007, Vol 101, Num 8, pp 1708-1714, issn 0954-6111, 7 p.Article

A place for genetic uncertainty : Parents valuing an unknown in the meaning of diseaseWHITMARSH, Ian; DAVIS, Arlene M; SKINNER, Debra et al.Social science & medicine (1982). 2007, Vol 65, Num 6, pp 1082-1093, issn 0277-9536, 12 p.Article

Procreative Altruism: Beyond Individualism in Reproductive SelectionDOUGLAS, Thomas; DEVOLDER, Katrien.The Journal of medicine and philosophy (Print). 2013, Vol 38, Num 4, pp 400-419, issn 0360-5310, 20 p.Article

La Corte Costituzionale e la decostruzione della legge sulla procreazione medicalmente assistita = Costitutional Court's and the deconstruction of the law on Medically Assisted Reproduction = La cour constitutionnelle et la déconstruction de la loi sur la procréation médicalement assistéeCASINI, Carlo; CASINI, Marina; DI PIETRO, Maria Luisa et al.Medicina e morale. 2009, Vol 59, Num 3, pp 439-459, issn 0025-7834, 21 p.Article

La diagnosi genetica preimpianto : aspetti biomedici con aggiornamenti di letteratura scientifica = Preimplantation genetic diagnosis : biomedical issues with revision of scienti fic literatureROMANE, L; FABBRINI, F; D'AGOSTINO, P et al.Medicina e morale. 2006, Vol 56, Num 1, pp 67-102, issn 0025-7834, 36 p.Article

Genetics of recurrent pregnancy lossSIERRA, Sony; STEPHENSON, Mary.Seminars in reproductive medicine. 2006, Vol 24, Num 1, pp 17-24, 8 p.Article

Redefining Disability : Maleficent, Unjust and Inconsistent = Redéfinir le handicap : néfaste, injuste et incohérentCOX-WHITE, Becky; FLAVIA BOXALL, Susanna.The Journal of medicine and philosophy (Print). 2008, Vol 33, Num 6, pp 558-576, issn 0360-5310, 19 p.Article

Preimplantation Genetic Diagnosis, Reproductive Freedom, and Deliberative Democracy = Diagnostic génétique préimplantatoire, liberté de reproduction et démocratie délibérativeFARRELLY, Colin.The Journal of medicine and philosophy (Print). 2009, Vol 34, Num 2, pp 135-154, issn 0360-5310, 20 p.Article

Preimplantation genetic diagnosis : technological promise and ethical perilsKLIPSTEIN, Sigal.Fertility and sterility. 2005, Vol 83, Num 5, pp 1347-1353, issn 0015-0282, 7 p.Article

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian familiesHEYTENS, L.Acta anaesthesiologica Belgica. 2007, Vol 58, Num 2, pp 113-118, issn 0001-5164, 6 p.Article

La diagnosi pre-impiantatoria : Lo stato dell'arte scientifico e gli interrogativi etici -Parte I = The preimplantation genetic diagnosis. The state of the scientific art and the ethic questions = Le diagnotsic préimplantatoire : l'état de l'art scientifique et les questions éthiquesSUAUDEAU, Jacques.Medicina e morale. 2007, Vol 57, Num 3, pp 491-531, issn 0025-7834, 41 p.Article

Preimplantation genetic diagnosis for an insertional translocation carrierMELOTTE, C; DEBROCK, S; D'HOOGHE, T et al.Human reproduction (Oxford. Print). 2004, Vol 19, Num 12, pp 2777-2783, issn 0268-1161, 7 p.Article

Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis : a possible solution for the Italian patientsFIORENTINO, F; BIRICIK, A; MOSCARINI, M et al.Prenatal diagnosis. 2008, Vol 28, Num 1, pp 62-64, issn 0197-3851, 3 p.Article

La diagnosi pre-impiantatoria : Lo stato dell'arte scientifico e gli interrogativi etici -parte II = The preimplantation genetic diagnosis. The state of the scientific art and the ethical questions = Le diagnostic préimplantatoire. L'état de l'art et les questions éthiquesSUAUDEAU, Jacques.Medicina e morale. 2007, Vol 57, Num 4, pp 717-751, issn 0025-7834, 35 p.Article