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Refinado por: Nome da Publicação: American Journal Of Medical Genetics remover assunto: Infant remover Family Health remover
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1
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
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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 PHOX2b

Weese-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 Company

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2
"Everybody in the world is my friend" hypersociability in young children with Williams syndrome
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"Everybody in the world is my friend" hypersociability in young children with Williams syndrome

Doyle, Teresa F. ; Bellugi, Ursula ; Korenberg, Julie R. ; Graham, John

American 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 Company

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3
Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries
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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 arteries

Loffredo, 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 Company

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4
Early hearing detection and intervention programs: Opportunities for genetic services
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Early hearing detection and intervention programs: Opportunities for genetic services

White, 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 Company

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5
Genetic association analysis of behavioral inhibition using candidate loci from mouse models
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Genetic association analysis of behavioral inhibition using candidate loci from mouse models

Smoller, 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, Inc

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6
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation
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Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation

Carballo, Miguel ; Roig, Ignasi ; Aguilar, Francesc ; Pol, Maria Antonia ; Gamundi, María José ; Hernan, Imma ; Martinez-Gimeno, María

American journal of medical genetics, 2005-02, Vol.132A (4), p.361-364 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Examining for association between candidate gene polymorphisms in the dopamine pathway and attention-deficit hyperactivity disorder: A family-based study
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Examining for association between candidate gene polymorphisms in the dopamine pathway and attention-deficit hyperactivity disorder: A family-based study

Payton, 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, Anita

American journal of medical genetics, 2001-07, Vol.105 (5), p.464-470 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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8
22q13 deletion syndrome
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22q13 deletion syndrome

Phelan, 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, Inc

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9
Joubert syndrome is not a cause of classical autism
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Joubert syndrome is not a cause of classical autism

Takahashi, 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 Company

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10
Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance
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Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance

Hedera, 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 Company

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