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Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2bWeese-Mayer, Debra E. ; Berry-Kravis, Elizabeth M. ; Zhou, Lili ; Maher, Brion S. ; Silvestri, Jean M. ; Curran, Mark E. ; Marazita, Mary L.American journal of medical genetics, 2003-12, Vol.123A (3), p.267-278 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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"Everybody in the world is my friend" hypersociability in young children with Williams syndromeDoyle, Teresa F. ; Bellugi, Ursula ; Korenberg, Julie R. ; Graham, JohnAmerican journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.263-273 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteriesLoffredo, Christopher A. ; Chokkalingam, Anand ; Sill, Anne M. ; Boughman, Joann A. ; Clark, Edward B. ; Scheel, Janet ; Brenner, Joel I.American journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.225-230 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Early hearing detection and intervention programs: Opportunities for genetic servicesWhite, Karl R.American journal of medical genetics, 2004-09, Vol.130A (1), p.29-36 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Genetic association analysis of behavioral inhibition using candidate loci from mouse modelsSmoller, Jordan W. ; Rosenbaum, Jerrold F. ; Biederman, Joseph ; Susswein, Lisa S. ; Kennedy, John ; Kagan, Jerome ; Snidman, Nancy ; Laird, Nan ; Tsuang, Ming T. ; Faraone, Stephen V. ; Schwarz, Alysandra ; Slaugenhaupt, Susan A.American journal of medical genetics, 2001-04, Vol.105 (3), p.226-235 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentationCarballo, Miguel ; Roig, Ignasi ; Aguilar, Francesc ; Pol, Maria Antonia ; Gamundi, María José ; Hernan, Imma ; Martinez-Gimeno, MaríaAmerican journal of medical genetics, 2005-02, Vol.132A (4), p.361-364 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Examining for association between candidate gene polymorphisms in the dopamine pathway and attention-deficit hyperactivity disorder: A family-based studyPayton, Antony ; Holmes, Jane ; Barrett, Jennifer H. ; Hever, Tracey ; Fitzpatrick, Helen ; Trumper, Anne L. ; Harrington, Richard ; McGuffin, Peter ; O'Donovan, Michael ; Owen, Michael ; Ollier, William ; Worthington, Jane ; Thapar, AnitaAmerican journal of medical genetics, 2001-07, Vol.105 (5), p.464-470 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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22q13 deletion syndromePhelan, Mary C. ; Rogers, R. Curtis ; Saul, Robert A. ; Stapleton, Gail A. ; Sweet, Kevin ; McDermid, Heather ; Shaw, Steven R. ; Claytor, Joanne ; Willis, Jan ; Kelly, Desmond P.American journal of medical genetics, 2001-06, Vol.101 (2), p.91-99 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Joubert syndrome is not a cause of classical autismTakahashi, T.N. ; Farmer, J.E. ; Deidrick, K.K. ; Hsu, B.S. ; Miles, J.H. ; Maria, B.L.American journal of medical genetics, 2005-02, Vol.132A (4), p.347-351 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant InheritanceHedera, Peter ; Gorski, Jerome L.American journal of medical genetics, 2003-12, Vol.123A (3), p.261-266 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |