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Refinado por: Base de dados/Biblioteca: AUC Wiley Frozen Package in 2012 remover Nome da Publicação: American Journal Of Medical Genetics remover assunto: Chromosome Aberrations remover
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1
New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy?
New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy?
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New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): A risk factor for spina bifida acting in mothers during pregnancy?

Johnson, William G. ; Stenroos, Edward S. ; Spychala, John R. ; Chatkupt, Sansnee ; Ming, Sue X. ; Buyske, Steven

American journal of medical genetics, 2004-02, Vol.124A (4), p.339-345 [Periódico revisado por pares]

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

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2
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region
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GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region

Morris, Colleen A. ; Mervis, Carolyn B. ; Hobart, Holly H. ; Gregg, Ronald G. ; Bertrand, Jacquelyn ; Ensing, Gregory J. ; Sommer, Annemarie ; Moore, Cynthia A. ; Hopkin, Robert J. ; Spallone, Patricia A. ; Keating, Mark T. ; Osborne, Lucy ; Kimberley, Kendra W. ; Stock, A. Dean

American journal of medical genetics, 2003-11, Vol.123A (1), p.45-59 [Periódico revisado por pares]

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

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3
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
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The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

Bolton, Patrick Farrar ; Dennis, N.R. ; Browne, C.E. ; Thomas, N.S. ; Veltman, M.W.M. ; Thompson, R.J. ; Jacobs, P.

American journal of medical genetics, 2001-12, Vol.105 (8), p.675-685 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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4
Deletion of the SLUG (SNAI2) gene results in human piebaldism
Deletion of the SLUG (SNAI2) gene results in human piebaldism
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Deletion of the SLUG (SNAI2) gene results in human piebaldism

Sánchez-Martín, Manuel ; Pérez-Losada, Jesús ; Rodríguez-García, Arancha ; González-Sánchez, Belén ; Korf, Bruce R. ; Kuster, W. ; Moss, Celia ; Spritz, Richard A. ; Sánchez-García, I.

American journal of medical genetics, 2003-10, Vol.122A (2), p.125-132 [Periódico revisado por pares]

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

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5
Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome
Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome
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Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

Bosco, Paolo ; Guéant-Rodriguez, Rosa-Maria ; Anello, Guido ; Barone, Concetta ; Namour, Farès ; Caraci, Filippo ; Romano, Antonino ; Romano, Corrado ; Guéant, Jean-Louis

American journal of medical genetics, 2003-09, Vol.121A (3), p.219-224 [Periódico revisado por pares]

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

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6
22q11 deletion syndrome in adults with schizophrenia
22q11 deletion syndrome in adults with schizophrenia
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22q11 deletion syndrome in adults with schizophrenia

Bassett, Anne S. ; Hodgkinson, Kathy ; Chow, Eva W.C. ; Correia, Susana ; Scutt, Laura E. ; Weksberg, Rosanna

American journal of medical genetics, 1998-07, Vol.81 (4), p.328-337 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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7
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
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A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

van Steensel, M.A.M. ; Spruijt, L. ; van der Burgt, I. ; Bladergroen, R.S. ; Vermeer, M. ; Steijlen, P.M. ; van Geel, M.

American journal of medical genetics, 2005-01, Vol.132A (2), p.171-174 [Periódico revisado por pares]

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

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8
Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling
Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling
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Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling

Resta, Robert G.

American journal of medical genetics, 2005-02, Vol.133A (1), p.31-36 [Periódico revisado por pares]

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

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9
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
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Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development

Õunap, K. ; Uibo, O. ; Zordania, R. ; Kiho, L. ; Ilus, T. ; Õiglane‐Shlik, E. ; Bartsch, O.

American journal of medical genetics, 2004-11, Vol.130A (4), p.415-423 [Periódico revisado por pares]

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

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10
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population
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A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

Staehling-Hampton, Karen ; Proll, Sean ; Paeper, Bryan W. ; Zhao, Lei ; Charmley, Patrick ; Brown, Analisa ; Gardner, Jessica C. ; Galas, David ; Schatzman, Randall C. ; Beighton, Peter ; Papapoulos, Socrates ; Hamersma, Herman ; Brunkow, Mary E.

American journal of medical genetics, 2002-06, Vol.110 (2), p.144-152 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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