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OMPHALOCELE, RADIAL RAY DEFECT AND DIAPHRAGMATIC HERNIA: ANOTHER CASE OF GERSHONI-BARUCH SYNDROME?OUDESLUIJS, G.Genetic counseling. 2014, Vol 25, Num 1, pp 77-79, issn 1015-8146, 3 p.Article

GENETIC RISK SCORE FOR NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE FOR A CHILEAN POPULATIONBLANCO, R; COLOMBO, A; SUAZO, J et al.Genetic counseling. 2014, Vol 25, Num 2, pp 143-149, issn 1015-8146, 7 p.Article

A NEW PATIENT WITH ANDERMANN SYNDROME: AN UNDERDIAGNOSED CLINICAL GENETICS ENTITY?DEGERLIYURT, A; AKGUMUS, G; CAGLAR, C et al.Genetic counseling. 2013, Vol 24, Num 3, pp 283-289, issn 1015-8146, 7 p.Article

AN EXTREMELY RARE CASE: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIAKASAPKARA, C. S; KÜCÜKCONGAR, A; BOYUNAGA, O et al.Genetic counseling. 2013, Vol 24, Num 1, pp 69-74, issn 1015-8146, 6 p.Article

TETRASOMY 12P PRESENTING WITH LONG APPENDIX: A PRENATAL CASEAYDIN, H; ARISOY, R; GECKINLI, B et al.Genetic counseling. 2013, Vol 24, Num 4, pp 439-440, issn 1015-8146, 2 p.Article

FOCAL FIBROCARTILAGINOUS DYSPLASIA IN THE UPPER LIMB: CASE REPORT AND REVIEW OF THE LITERATUREVERHOEVEN, N; DE SMET, L.Genetic counseling. 2013, Vol 24, Num 4, pp 373-379, issn 1015-8146, 7 p.Article

Non―invasive prenatal measurement of the fetal genomeCHRISTINA FAN, H; WEI GU; JIANBIN WANG et al.Nature (London). 2012, Vol 487, Num 7407, pp 320-324, issn 0028-0836, 5 p.Article

Reproductive empowerment: The main motivator and outcome of carrier testingLEWIS, Celine; SKIRTON, Heather; JONES, Ray et al.Journal of health psychology. 2012, Vol 17, Num 4, pp 567-578, issn 1359-1053, 12 p.Article

The Perceived Personal Control (PPC) Questionnaire: Reliability and Validity in a Sample From the United KingdomMCALLISTER, Marion; WOOD, Alex M; DUNN, Graham et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 367-372, issn 1552-4825, 6 p.Article

A Comparison of the Background, Needs, and Expectations of Patients Seeking Genetic Counselling ServicesPETERS, Kathryn F; PETRILL, Stephen A.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 697-705, issn 1552-4825, 9 p.Article

Contractions in the Second PolyA Tract of ARX are Rare, Non-Pathogenic PolymorphismsCONTI, Valerio; MARINI, Carla; MEI, Davide et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 1, pp 164-167, issn 1552-4825, 4 p.Article

Development of a Scale to Assets the Background, Needs, and Expectations of Genetic Counseling ClientsPETERS, Kathryn F; PETRILL, Stephen A.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 673-683, issn 1552-4825, 11 p.Article

Baculovirus as vectors for human cells and applications in organ transplantationHITCHMAN, Richard B; MURGUIA-MECA, Fernanda; LOCANTO, Elisabetta et al.Journal of invertebrate pathology (Print). 2011, Vol 107, issn 0022-2011, S49-S58, SUPArticle

Attitudes Regarding Predictive Genetic Testing in Minors : A Survey of European Clinical GeneticistsBORRY, Pascal; GOFFIN, Tom; NYS, Herman et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2008, Vol 148, Num 1, pp 78-83, issn 1552-4868, 6 p.Article

A comparison of phasing algorithms for trios and unrelated individualsMARCHINI, Jonathan; CUTLER, David; DONNELLY, Peter et al.American journal of human genetics. 2006, Vol 78, Num 3, pp 437-450, issn 0002-9297, 14 p.Article

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisTOPAZ, Orit; INDELMAN, Margarita; RICHARD, Gabriele et al.American journal of human genetics. 2006, Vol 79, Num 4, pp 759-764, issn 0002-9297, 6 p.Article

A murine model for human sepiapterin-reductase deficiencySEUNGKYOUNG YANG; YOUNG JAE LEE; KIM, Jin-Man et al.American journal of human genetics. 2006, Vol 78, Num 4, pp 575-587, issn 0002-9297, 13 p.Article

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiencyQUINZII, Catarina; NAINI, Ali; SALVIATI, Leonardo et al.American journal of human genetics. 2006, Vol 78, Num 2, pp 345-349, issn 0002-9297, 5 p.Article

A text-mining analysis of the human phenomeVAN DRIEL, Marc A; BRUGGEMAN, Jorn; VRIEND, Gert et al.European journal of human genetics. 2006, Vol 14, Num 5, pp 535-542, issn 1018-4813, 8 p.Article

An ancient balanced polymorphism in a regulatory region of human major histocompatibility complex is retained in Chinese minorities but lost worldwideXIAOYI LIU; YONGGUI FU; KAI ZENG et al.American journal of human genetics. 2006, Vol 78, Num 3, pp 393-400, issn 0002-9297, 8 p.Article

An utter refutation of the 'fundamental theorem of the HapMap'TERWILLIGER, Joseph D; HIEKKALINNA, Tero.European journal of human genetics. 2006, Vol 14, Num 4, pp 426-437, issn 1018-4813, 12 p.Article

Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia : a meta-analysisDAWEI LI; LIN HE.European journal of human genetics. 2006, Vol 14, Num 10, pp 1130-1135, issn 1018-4813, 6 p.Article

Diversity and functional consequences of germline and somatic PTPN11 mutations in human diseaseTARTAGLIA, Marco; MARTINELLI, Simone; SORCINI, Mariella et al.American journal of human genetics. 2006, Vol 78, Num 2, pp 279-290, issn 0002-9297, 12 p.Article

Expanding the phenotypic spectrum of L1CAM-associated diseaseBASEL-VANAGAITE, L; STRAUSSBERG, R; FRIEZ, M. J et al.Clinical genetics. 2006, Vol 69, Num 5, pp 414-419, issn 0009-9163, 6 p.Article

Genetic knowledge and moral responsibility : ambiguity at the interface of genetic research and clinical practicePULLMAN, D; HODGKINSON, K.Clinical genetics. 2006, Vol 69, Num 3, pp 199-203, issn 0009-9163, 5 p.Article

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